ClinVar Miner

List of variants in gene CRPPA studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16091685)_(16091809_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.3(CRPPA):c.535-?_933+?del
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) rs1032859096
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.534+13T>A rs6461252
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly)
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser)
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.835+2T>C rs773325665
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001101426.4(CRPPA):c.933+5G>C rs1554305652
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665

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