ClinVar Miner

List of variants studied for Keratoderma palmoplantar deafness by OMIM

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Total variants: 4
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NC_012920.1:m.7445A>G rs199474818
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593

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