ClinVar Miner

List of variants studied for Temple-Baraitser syndrome by OMIM

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Total variants: 4
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HGVS dbSNP
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg) rs727502821
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe) rs727502820
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn) rs727502822

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