ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163

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