ClinVar Miner

List of variants reported as pathogenic for exudative vitreoretinopathy 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) rs104894223 0.00054
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) rs748653573 0.00002
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) rs80358294 0.00001
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) rs1057519380
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1412+1G>A rs2098643283
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) rs80358292
NM_012193.4(FZD4):c.1024A>G (p.Met342Val) rs80358293
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) rs80358301
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys)
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs)
Single allele

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