ClinVar Miner

List of variants in gene ELMOD3 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (249):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001135022.2(ELMOD3):c.269-13C>T rs188058240 0.00009
NM_001135022.2(ELMOD3):c.701C>T (p.Ala234Val) rs779560360 0.00003
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001135022.2(ELMOD3):c.1031C>T (p.Ser344Phe)
NM_001135022.2(ELMOD3):c.421G>A (p.Gly141Arg)
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser) rs587777040

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