ClinVar Miner

List of variants studied for Deafness, autosomal recessive 42

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Total variants: 10
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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.1291C>T (p.Arg431Cys) rs376510686
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser)
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.942C>A (p.Cys314Ter) rs752714222

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