ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.*297C>T rs772638575 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.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
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.37G>A (p.Glu13Lys) rs1042724474 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.98G>A (p.Arg33Gln) rs1085307822 0.00001
NM_003673.4(TCAP):c.110_110+1del rs786205076
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.341A>G (p.Gln114Arg) rs1355624192
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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