ClinVar Miner

List of variants in gene CRPPA reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104 0.00007
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=) rs886042759 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 0.00004
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.668A>G (p.Tyr223Cys) rs1364759577 0.00003
NM_001101426.4(CRPPA):c.978T>A (p.His326Gln) rs901037542 0.00003
NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu) rs752622525 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001101426.4(CRPPA):c.1058A>G (p.Lys353Arg) rs777155055 0.00001
NM_001101426.4(CRPPA):c.1120-4G>A rs886042445 0.00001
NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn) rs368477537 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.248C>T (p.Ala83Val) rs886044513 0.00001
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=) rs765435429 0.00001
NM_001101426.4(CRPPA):c.561A>G (p.Val187=) rs376375569 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.836-9T>A rs754223084 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823 0.00001
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=) rs370052768 0.00001
NM_001101426.4(CRPPA):c.1027-7C>T rs1453881839
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs) rs1554300194
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs) rs1554291235
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) rs571551238
NM_001101426.4(CRPPA):c.117G>C (p.Glu39Asp) rs1050359487
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.1307T>C (p.Leu436Ser) rs886044546
NM_001101426.4(CRPPA):c.209C>G (p.Pro70Arg) rs886042746
NM_001101426.4(CRPPA):c.239C>A (p.Thr80Asn) rs886044479
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.322ATT[1] (p.Ile109del) rs1554364074
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.382A>G (p.Arg128Gly) rs765435429
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.560T>C (p.Val187Ala) rs1554347337
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.640C>T (p.Pro214Ser) rs886043226
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.822A>T (p.Glu274Asp) rs886042675
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.859G>A (p.Val287Ile) rs1562603622
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.979C>G (p.Leu327Val) rs587780361
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693

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