ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.936del (p.Asp313fs)
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.46305-2A>G
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter) rs2052563186
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634

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