ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2G

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Total variants: 33
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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.*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.*128G>A rs1019098438 0.00007
NM_003673.4(TCAP):c.111-13C>T rs773913117 0.00003
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=) rs749565002 0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His) rs147503632 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 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+5G>T rs794729178
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.111-13C>A rs773913117
NM_003673.4(TCAP):c.14_15del (p.Glu5fs) rs757082868
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) rs778568339
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.34dup (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.415C>T (p.Gln139Ter) rs2145074459
NM_003673.4(TCAP):c.90_91del (p.Ser31fs) rs1555606976

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