ClinVar Miner

List of variants in gene POMGNT2 reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter)
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455

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