ClinVar Miner

List of variants reported as uncertain significance for congenital vitreoretinal dysplasia by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_001243766.1(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_001243766.1(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_001243766.1(POMGNT1):c.269G>A (p.Arg90His) rs139701867
NM_001243766.1(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073
NM_001243766.1(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_001243766.1(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253
NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) rs768256055
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764

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