ClinVar Miner

List of variants in gene POMK reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766 0.00028
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063 0.00017
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002

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