ClinVar Miner

List of variants in gene POMT2 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: 11
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NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) rs759220971
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) rs775222771
NM_013382.5(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.5(POMT2):c.636G>A (p.Lys212=) rs368906346
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043

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