ClinVar Miner

List of variants reported as benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_024928.5(STN1):c.743C>G (p.Ser248Cys) rs10786775 0.83755
NM_024928.5(STN1):c.451A>G (p.Thr151Ala) rs2487999 0.83741
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_022167.4(XYLT2):c.1569T>C (p.Tyr523=) rs4794136 0.47479
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_024928.5(STN1):c.696G>C (p.Val232=) rs11191853 0.22163
NM_022167.4(XYLT2):c.177G>A (p.Glu59=) rs739990 0.18425
NM_022167.4(XYLT2):c.342C>T (p.Pro114=) rs739989 0.18425
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_022167.4(XYLT2):c.30G>T (p.Leu10=) rs9912503 0.04702
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_025099.6(CTC1):c.*43C>T rs3027245 0.01554
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_022167.4(XYLT2):c.922C>T (p.Leu308=) rs138789012 0.00352
NM_022167.4(XYLT2):c.1938G>A (p.Leu646=) rs3803883 0.00250
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr) rs12451299
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1818+36C>T rs4792621
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822

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