ClinVar Miner

List of variants in gene ILDR1 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: 9
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HGVS dbSNP
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) rs387907015
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.583C>T (p.Gln195Ter) rs387907017
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) rs1559875009
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)
NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) rs752714222
NM_001199799.2(ILDR1):c.9G>A (p.Trp3Ter)

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