ClinVar Miner

List of variants studied for Leber congenital amaurosis 12 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.500G>A (p.Arg167Lys) rs74782684 0.01632
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_001164688.2(RD3):c.84G>A (p.Thr28=) rs61740158 0.00932
NM_001164688.2(RD3):c.296+18G>A rs112790429 0.00876
NM_001164688.2(RD3):c.16T>C (p.Trp6Arg) rs35649846 0.00871
NM_001164688.2(RD3):c.235T>C (p.Leu79=) rs35937732 0.00870
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_001164688.2(RD3):c.69G>C (p.Glu23Asp) rs34422496 0.00786
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_001164688.2(RD3):c.83C>T (p.Thr28Met) rs61740157 0.00102
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_001164688.2(RD3):c.168C>T (p.Thr56=) rs146420268 0.00057
NM_001164688.2(RD3):c.325C>T (p.Pro109Ser) rs368257358 0.00044
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00040
NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) rs144697496 0.00025
NM_001164688.2(RD3):c.318G>A (p.Glu106=) rs372509543 0.00021
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.433C>A (p.Arg145=) rs774736321 0.00008
NM_001164688.2(RD3):c.252C>T (p.Val84=) rs758095282 0.00007
NM_001164688.2(RD3):c.171T>G (p.Gly57=) rs370712983 0.00006
NM_001164688.2(RD3):c.450G>A (p.Leu150=) rs367790139 0.00006
NM_001164688.2(RD3):c.134G>A (p.Arg45Gln) rs146921079 0.00005
NM_001164688.2(RD3):c.135G>A (p.Arg45=) rs374821619 0.00005
NM_001164688.2(RD3):c.327C>G (p.Pro109=) rs774437667 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.231G>A (p.Glu77=) rs779179784 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.498C>T (p.Ile166=) rs779584830 0.00004
NM_001164688.2(RD3):c.540A>G (p.Pro180=) rs777005487 0.00004
NM_001164688.2(RD3):c.150G>A (p.Ala50=) rs751609154 0.00003
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.102G>A (p.Thr34=) rs199511076 0.00002
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.30C>T (p.Asn10=) rs774563819 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.417G>A (p.Thr139=) rs1232346364 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
NC_000001.10:g.(?_211652378)_(211654757_?)del
NM_001164688.2(RD3):c.111G>A (p.Met37Ile)
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
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.13_14del (p.Ser5fs) rs761112550
NM_001164688.2(RD3):c.141C>T (p.Arg47=)
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.198A>G (p.Thr66=)
NM_001164688.2(RD3):c.1A>G (p.Met1Val)
NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) rs2102367767
NM_001164688.2(RD3):c.207C>G (p.Ser69=)
NM_001164688.2(RD3):c.216C>T (p.Asp72=)
NM_001164688.2(RD3):c.233G>C (p.Arg78Pro)
NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)
NM_001164688.2(RD3):c.255C>T (p.Cys85=)
NM_001164688.2(RD3):c.256G>A (p.Val86Ile)
NM_001164688.2(RD3):c.264C>T (p.Ile88=)
NM_001164688.2(RD3):c.279T>C (p.Cys93=) rs1462748072
NM_001164688.2(RD3):c.284C>T (p.Pro95Leu) rs1157836749
NM_001164688.2(RD3):c.296+18del rs753221814
NM_001164688.2(RD3):c.296+1G>T rs386834260
NM_001164688.2(RD3):c.296+9dup
NM_001164688.2(RD3):c.296G>A (p.Arg99Lys)
NM_001164688.2(RD3):c.297-16C>T rs1348603288
NM_001164688.2(RD3):c.327C>T (p.Pro109=) rs774437667
NM_001164688.2(RD3):c.333G>T (p.Val111=)
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.360G>C (p.Ser120=)
NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) rs2102366503
NM_001164688.2(RD3):c.369G>A (p.Gln123=) rs2102366496
NM_001164688.2(RD3):c.381G>A (p.Glu127=)
NM_001164688.2(RD3):c.386T>A (p.Met129Lys) rs1401610655
NM_001164688.2(RD3):c.38del (p.Pro13fs)
NM_001164688.2(RD3):c.431T>A (p.Leu144Gln)
NM_001164688.2(RD3):c.438C>T (p.Pro146=)
NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)
NM_001164688.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) rs748059354
NM_001164688.2(RD3):c.481C>T (p.Pro161Ser)
NM_001164688.2(RD3):c.483C>G (p.Pro161=)
NM_001164688.2(RD3):c.492C>T (p.Ser164=) rs1705209781
NM_001164688.2(RD3):c.511G>C (p.Glu171Gln)
NM_001164688.2(RD3):c.516C>T (p.Asp172=)
NM_001164688.2(RD3):c.537G>T (p.Pro179=) rs759768016
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.568C>A (p.Arg190=)
NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) rs1374882349
NM_001164688.2(RD3):c.582C>T (p.Ala194=)
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)
NM_001164688.2(RD3):c.87T>C (p.Leu29=)
NM_001164688.2(RD3):c.97C>T (p.Leu33=) rs2102367931

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