ClinVar Miner

List of variants reported as benign for congenital vitreoretinal dysplasia by Mendelics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228
NM_017739.3(POMGNT1):c.1867= (p.Val623=) rs6659553
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649

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