ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561

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