ClinVar Miner

List of variants in gene POMGNT2 reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222

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