ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Institute of Human Genetics, University of Leipzig Medical Center

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.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-TW):m.5521G>A rs199474673
NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter) rs1489832770
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs) rs1702181550
NM_001267550.2(TTN):c.96464del (p.Val32155fs) rs2154143564
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_004006.3(DMD):c.3793del (p.Trp1265fs)
NM_004006.3(DMD):c.4391del (p.Pro1464fs)
NM_004006.3(DMD):c.5530del (p.Arg1844fs) rs2097762566
NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_007126.5(VCP):c.294T>A (p.Asp98Glu) rs1828864269
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) rs1382829987
NM_170707.4(LMNA):c.409C>G (p.Leu137Val) rs747998566

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