ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_001243766.1(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT rs1553162621

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