ClinVar Miner

List of variants in gene CRPPA reported as pathogenic

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
GRCh37/hg19 7p21.2(chr7:16369989-16486969)x1
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs) rs1554300194
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
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.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)

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