ClinVar Miner

List of variants in gene ESRRB reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
ESRRB, 7-BP DUP, NT1018
NM_004452.3(ESRRB):c.1024G>T (p.Val342Leu) rs121909111
NM_004452.3(ESRRB):c.329C>T (p.Ala110Val) rs121909110
NM_004452.3(ESRRB):c.545G>A (p.Arg182His) rs1060499794
NM_004452.3(ESRRB):c.787G>A (p.Gly263Ser) rs375916159

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