ClinVar Miner

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

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.8400+28A>G rs2915953 0.32146
NM_001100.4(ACTA1):c.809-35del rs59228224 0.20823
NM_000540.3(RYR1):c.-108T>C rs4632259 0.04408
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001100.4(ACTA1):c.617-5C>T rs199804338 0.00399
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser) rs890297188 0.00003
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_001005361.3(DNM2):c.162-6del rs766449694 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.654C>T (p.Asp218=) rs763948283 0.00001
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359

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