ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 12 by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00057
NM_001164688.2(RD3):c.325C>T (p.Pro109Ser) rs368257358 0.00044
NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) rs144697496 0.00025
NM_001164688.2(RD3):c.101C>T (p.Thr34Met) rs148242709 0.00019
NM_001164688.2(RD3):c.31G>A (p.Glu11Lys) rs145054188 0.00018
NM_001164688.2(RD3):c.404C>T (p.Ala135Val) rs909555536 0.00009
NM_001164688.2(RD3):c.43C>T (p.Arg15Trp) rs376558739 0.00009
NM_001164688.2(RD3):c.134G>A (p.Arg45Gln) rs146921079 0.00005
NM_001164688.2(RD3):c.140G>A (p.Arg47His) rs756510440 0.00004
NM_001164688.2(RD3):c.170G>T (p.Gly57Val) rs767481165 0.00004
NM_001164688.2(RD3):c.20T>A (p.Leu7His) rs372790239 0.00004
NM_001164688.2(RD3):c.232C>T (p.Arg78Trp) rs755218137 0.00004
NM_001164688.2(RD3):c.233G>A (p.Arg78Gln) rs199896612 0.00004
NM_001164688.2(RD3):c.297-3C>G rs764677890 0.00004
NM_001164688.2(RD3):c.160G>T (p.Val54Phe) rs752946135 0.00003
NM_001164688.2(RD3):c.527A>G (p.Asp176Gly) rs775663367 0.00003
NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) rs368631943 0.00002
NM_001164688.2(RD3):c.283C>T (p.Pro95Ser) rs759162527 0.00002
NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) rs371097322 0.00002
NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) rs370045355 0.00002
NM_001164688.2(RD3):c.65C>A (p.Ala22Asp) rs371743426 0.00002
NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) rs750239049 0.00001
NM_001164688.2(RD3):c.203G>A (p.Arg68Gln) rs777789102 0.00001
NM_001164688.2(RD3):c.227T>C (p.Ile76Thr) rs752858252 0.00001
NM_001164688.2(RD3):c.22C>T (p.Arg8Trp) rs142307843 0.00001
NM_001164688.2(RD3):c.297G>A (p.Arg99=) rs575487939 0.00001
NM_001164688.2(RD3):c.2T>C (p.Met1Thr) rs1046628693 0.00001
NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) rs764736043 0.00001
NM_001164688.2(RD3):c.493G>A (p.Asp165Asn) rs746738197 0.00001
NM_001164688.2(RD3):c.509C>T (p.Ser170Phe) rs776821754 0.00001
NM_001164688.2(RD3):c.511G>A (p.Glu171Lys) rs373687238 0.00001
NM_001164688.2(RD3):c.560C>A (p.Pro187His) rs1268167803 0.00001
NM_001164688.2(RD3):c.89T>A (p.Met30Lys) rs757374757 0.00001
NM_001164688.2(RD3):c.94G>C (p.Glu32Gln) rs368003568 0.00001
NM_001164688.2(RD3):c.111G>A (p.Met37Ile)
NM_001164688.2(RD3):c.113G>A (p.Arg38Gln)
NM_001164688.2(RD3):c.119C>T (p.Ala40Val)
NM_001164688.2(RD3):c.11T>C (p.Ile4Thr)
NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) rs745483958
NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) rs140156866
NM_001164688.2(RD3):c.149C>T (p.Ala50Val)
NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) rs750239049
NM_001164688.2(RD3):c.1A>G (p.Met1Val)
NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) rs2102367767
NM_001164688.2(RD3):c.233G>C (p.Arg78Pro)
NM_001164688.2(RD3):c.256G>A (p.Val86Ile)
NM_001164688.2(RD3):c.284C>T (p.Pro95Leu) rs1157836749
NM_001164688.2(RD3):c.296G>A (p.Arg99Lys)
NM_001164688.2(RD3):c.348G>T (p.Gln116His) rs1044780517
NM_001164688.2(RD3):c.355C>T (p.Arg119Cys) rs756475390
NM_001164688.2(RD3):c.360G>A (p.Ser120=)
NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) rs2102366503
NM_001164688.2(RD3):c.386T>A (p.Met129Lys) rs1401610655
NM_001164688.2(RD3):c.431T>A (p.Leu144Gln)
NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)
NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) rs748059354
NM_001164688.2(RD3):c.481C>T (p.Pro161Ser)
NM_001164688.2(RD3):c.511G>C (p.Glu171Gln)
NM_001164688.2(RD3):c.53C>T (p.Thr18Ile)
NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) rs747890482
NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) rs1051185578
NM_001164688.2(RD3):c.55A>T (p.Arg19Trp) rs1705256764
NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) rs1374882349
NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) rs151172389
NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) rs151172389
NM_001164688.2(RD3):c.83C>A (p.Thr28Lys)

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