ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2G by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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Total variants: 19
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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.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.282C>T (p.Phe94=) rs749565002 0.00001
NM_003673.4(TCAP):c.*418C>T rs45500896
NM_003673.4(TCAP):c.111-13C>A rs773913117
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267

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