ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_001044385.2(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.2(TMEM237):c.943+1G>T rs748510210
NM_001134831.1(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.1(AHI1):c.1152-2A>G rs753085250
NM_001134831.1(AHI1):c.1260G>A (p.Trp420Ter) rs863225143
NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.1(AHI1):c.1614delA (p.Val539Phefs) rs863225141
NM_001134831.1(AHI1):c.1626+1G>A rs863225137
NM_001134831.1(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.1(AHI1):c.1897_1898dupGG (p.Tyr634Aspfs) rs863225132
NM_001134831.1(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.1(AHI1):c.1976A>T (p.Asp659Val) rs541041911
NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.1(AHI1):c.2036+1G>T rs776093293
NM_001134831.1(AHI1):c.2098_2099dupGT (p.Tyr701Phefs) rs863225136
NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.1(AHI1):c.2172delA (p.Trp725Glyfs) rs755407014
NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.1(AHI1):c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) rs863225140
NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter) rs372659908
NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.1(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.1(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.1(AHI1):c.2687A>G (p.His896Arg) rs863225135
NM_001134831.1(AHI1):c.2705T>A (p.Val902Asp) rs368788993
NM_001134831.1(AHI1):c.662C>G (p.Ser221Ter) rs863225138
NM_001134831.1(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.1(AHI1):c.910dupA (p.Thr304Asnfs) rs753874898
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) rs587783013

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