ClinVar Miner

List of variants reported as pathogenic for hereditary skeletal muscle disorder by Myriad Genetics, Inc.

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024

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