ClinVar Miner

List of variants reported as pathogenic for Estrogen resistance syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000125.4(ESR1):c.1125G>T (p.Gln375His)	rs397509428
NM_000125.4(ESR1):c.1181G>A (p.Arg394His)	rs1131692059
NM_000125.4(ESR1):c.469C>T (p.Arg157Ter)	rs104893956

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