ClinVar Miner

List of variants in gene CRPPA studied for not specified

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_001101426.4(CRPPA):c.1026+45_1026+46del rs139478143 0.08746
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001101426.4(CRPPA):c.1251+50A>G rs78374272 0.02578
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
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.1251+18C>T rs201599524 0.00339
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.790-14T>C rs142414812 0.00123
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 0.00088
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001101426.4(CRPPA):c.684+12G>C rs376232862 0.00022
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) rs760178734 0.00007
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.685-19del rs778040240 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
GRCh37/hg19 7p21.2(chr7:16313474-16372361)x1
NM_001101426.4(CRPPA):c.*34C>G rs16878689
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) rs1424229425
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080

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