ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_001243766.1(POMGNT1):c.1539+1G>A rs138642840
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) rs386834015
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247

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