ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by 3billion, Medical Genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val) rs752397587
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly) rs1566973583
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
NM_000117.3(EMD):c.406del (p.Asp136fs) rs2148128715
NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) rs374207670
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del) rs2114794775
NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs)
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.2168-1G>A
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1625del (p.Asn542fs) rs2152786967
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)
NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)
NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs)
NM_001267550.2(TTN):c.74767dup (p.Asp24923fs) rs1343078144
NM_001848.3(COL6A1):c.1813+2_1813+3del rs2077836463
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001927.4(DES):c.735+2T>G
NM_003673.4(TCAP):c.110+1G>A rs113187448
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1399dup (p.Thr467fs)
NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)
NM_004006.3(DMD):c.2857del (p.Thr953fs)
NM_004006.3(DMD):c.506dup (p.Leu169fs) rs2148806096
NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter) rs199774535
NM_004006.3(DMD):c.5656dup (p.Ala1886fs) rs2146991528
NM_004006.3(DMD):c.7197dup (p.Lys2400fs) rs2149493164
NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter) rs2147076595
NM_004006.3(DMD):c.9224+5G>A rs1556503812
NM_004006.3(DMD):c.9238dup (p.Thr3080fs) rs2147649419
NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter) rs778367724
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_005476.7(GNE):c.448A>G (p.Ile150Val) rs758814313
NM_013382.7(POMT2):c.1706_1712del (p.His569fs) rs2140169285
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys) rs2133939892
NM_021971.4(GMPPB):c.129+1G>T rs2108213393
NM_021971.4(GMPPB):c.130-2A>C
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_032608.7(MYO18B):c.3492del (p.Phe1164fs) rs1601331202
NM_032608.7(MYO18B):c.7702T>G (p.Ter2568Glu) rs773577293
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter) rs2102780481
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs) rs1728633687
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)

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