ClinVar Miner

List of variants studied for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7

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ClinVar version:
Total variants: 108
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HGVS dbSNP
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16091685)_(16091809_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His)
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg)
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys)
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) rs1032859096
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met)
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu)
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp)
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile)
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly)
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser)
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser)
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His)
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys)
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val)
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104
NM_001101426.4(CRPPA):c.835+2T>C rs773325665
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+1G>A
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665

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