ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 18B

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro) rs7106548 0.47894
NM_001292063.2(OTOG):c.1955+24C>T rs10832802 0.38692
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=) rs4757548 0.37391
NM_001292063.2(OTOG):c.2561+14G>A rs4756902 0.37182
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) rs10832824 0.35674
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=) rs2023483 0.35618
NM_001292063.2(OTOG):c.2561+10G>A rs4756901 0.33002
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr) rs2355466 0.32233
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser) rs11024357 0.19620
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540

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