ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Mendelics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001243766.1(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_001243766.1(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_017739.3(POMGNT1):c.1867= (p.Val623=) rs6659553
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624

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