ClinVar Miner

List of variants in gene POMGNT2 reported as benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921

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