ClinVar Miner

List of variants in gene CRPPA reported as likely pathogenic

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Total variants: 10
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HGVS dbSNP
NC_000007.13:g.(?_16297995)_(16298657_?)del
NC_000007.13:g.(?_16298005)_(16298647_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)del
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.613C>T (p.Arg205Cys) rs376411072
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001101426.4(CRPPA):c.835+2T>C

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