ClinVar Miner

List of variants in gene ESR1 studied for carcinoma

Included ClinVar conditions (242):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_000125.4(ESR1):c.30T>C (p.Ser10=) rs2077647
NM_000125.4(ESR1):c.908A>G (p.Lys303Arg) rs796065354

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