ClinVar Miner

List of variants reported as likely pathogenic for congenital vitreoretinal dysplasia by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.835+2T>C rs773325665
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_006731.2(FKTN):c.780+2T>C rs1588136441
NM_013382.5(POMT2):c.1485-2_1485-1del rs1185491348
NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) rs1555351894
NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.5(POMT2):c.248+1G>C rs961440747
NM_014254.3(RXYLT1):c.170-1del rs1565898123
NM_014254.3(RXYLT1):c.743+1G>A rs778174763
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter) rs1021357430
NM_152490.5(B3GALNT2):c.1311+1G>C
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.842-1G>C rs764784497

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