ClinVar Miner

List of variants reported for Autosomal recessive nonsyndromic hearing loss 18B by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 0.00004
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885

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