ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000008.10:g.(?_42958682)_(42958983_?)del
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983

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