ClinVar Miner

List of variants in gene ILDR1 reported as likely pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs) rs2071390190
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078

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