WebHGVS dbSNP gnomAD frequency; NM_001378457.1(DMXL2):c.1008C>T (p.Pro336=) rs139211716 : 0.00973 : NM_001378457.1(DMXL2):c.1491G>C (p.Thr497=) rs114265876 : 0.00972 ... WebNM_001164508.2(NEB):c.6900A>G (p.Arg2300=) AND Nemaline myopathy 2 Clinical significance: Likely benign (Last evaluated: Nov 17, 2024) Review status: 1 star out of …
clinvarminer.genetics.utah.edu
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