ClinVar Miner

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

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) rs80326661 0.00552
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) rs199636726 0.00328
NM_000939.4(POMC):c.346C>T (p.Leu116=) rs34650613 0.00250
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00224
NM_000939.4(POMC):c.289A>C (p.Ser97Arg) rs746125905 0.00005
NM_000939.4(POMC):c.250T>G (p.Trp84Gly) rs748145117 0.00001
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000939.4(POMC):c.34del (p.Leu12fs) rs1671498215
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606

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