ClinVar Miner

List of variants in gene CRPPA reported by GeneDx

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Total variants: 62
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HGVS dbSNP
GRCh38/hg38 7p21.2(chr7:16325260-16401680)x1
NM_001101426.4(CRPPA):c.-145A>G
NM_001101426.4(CRPPA):c.-21C>T rs935897175
NM_001101426.4(CRPPA):c.1026+107A>C
NM_001101426.4(CRPPA):c.1026+111A>G
NM_001101426.4(CRPPA):c.1026+1G>T rs1554300301
NM_001101426.4(CRPPA):c.1026+45_1026+46del rs139478143
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.1120-20C>G
NM_001101426.4(CRPPA):c.1120-291C>T
NM_001101426.4(CRPPA):c.1120-334C>T
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) rs760178734
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.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524
NM_001101426.4(CRPPA):c.1251+252G>A
NM_001101426.4(CRPPA):c.1251+89T>A
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) rs1424229425
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) rs886043286
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832
NM_001101426.4(CRPPA):c.257+164T>C
NM_001101426.4(CRPPA):c.257+203C>G
NM_001101426.4(CRPPA):c.258-125T>A
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.534+13T>A rs6461252
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.613C>T (p.Arg205Cys) rs376411072
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.684+12G>C rs376232862
NM_001101426.4(CRPPA):c.685-19del rs778040240
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001101426.4(CRPPA):c.779A>G (p.Asp260Gly) rs1554320085
NM_001101426.4(CRPPA):c.789+276C>T
NM_001101426.4(CRPPA):c.789+321T>A
NM_001101426.4(CRPPA):c.789+57T>G
NM_001101426.4(CRPPA):c.789+89A>G
NM_001101426.4(CRPPA):c.790-11C>T rs141363557
NM_001101426.4(CRPPA):c.790-14T>C rs142414812
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.933+127A>G
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001101426.4(CRPPA):c.933+87A>G
NM_001101426.4(CRPPA):c.934-130_934-129insA
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936
NM_001101426.4(CRPPA):c.978T>A (p.His326Gln) rs901037542
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665

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