List of variants reported as uncertain significance for hereditary skeletal muscle disorder by ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)	rs144135230	0.00005
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)	rs118192120	0.00003
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)	rs748140394	0.00002
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)	rs886054379	0.00001
NC_000023.11:g.150657936T>A	rs727504019
NM_000252.3(MTM1):c.137-7T>G	rs587783784
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	rs118192138
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)	rs1049117716
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)	rs760010175
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)	rs745494410
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)	rs146508471
NM_001100.4(ACTA1):c.617-5C>A	rs199804338

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