ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000010.11:g.68247363_68253885del
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_013382.5(POMT2):c.334-3C>A rs1566658848
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842

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