ClinVar Miner

List of variants in gene CRPPA reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs) rs1554300194
NM_001101426.4(CRPPA):c.1105_1107GTT[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.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.1A>T (p.Met1Leu) rs886043573
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151

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