ClinVar Miner

List of variants in gene TCAP studied for autosomal recessive limb-girdle muscular dystrophy type 2G

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_003673.4(TCAP):c.*377G>C rs3194794 0.01272
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_003673.4(TCAP):c.*395C>T rs45540732 0.00792
NM_003673.4(TCAP):c.*54G>A rs45592941 0.00433
NM_003673.4(TCAP):c.*199G>T rs45503594 0.00371
NM_003673.4(TCAP):c.*76G>T rs45506294 0.00248
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_003673.4(TCAP):c.*297C>T rs772638575 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_003673.3(TCAP):c.-13A>G rs368175926 0.00010
NM_003673.4(TCAP):c.*292G>A rs185210946 0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_003673.4(TCAP):c.*128G>A rs1019098438 0.00007
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
NM_003673.4(TCAP):c.111-13C>T rs773913117 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003673.4(TCAP):c.267G>A (p.Leu89=) rs1419129039 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) rs2057250642 0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=) rs749565002 0.00001
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys) rs1042724474 0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His) rs147503632 0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) rs786205287 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln) rs1085307822 0.00001
NM_003673.4(TCAP):c.*418C>T rs45500896
NM_003673.4(TCAP):c.110+1G>A rs113187448
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.111-13C>A rs773913117
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val) rs2057251619
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.32C>A (p.Ser11Ter) rs45495192
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg) rs1355624192
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser) rs761498487
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
NM_003673.4(TCAP):c.478A>G (p.Met160Val) rs1057106389
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro) rs1555606961

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