ClinVar Miner

List of variants in gene OTOG reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 17
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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.4904C>T (p.Pro1635Leu) rs2041028 0.42330
NM_001292063.2(OTOG):c.5804C>T (p.Thr1935Met) rs7111528 0.39131
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.3408+15C>T rs7936484 0.13858
NM_001292063.2(OTOG):c.3188G>A (p.Arg1063Gln) rs11024333 0.13789
NM_001292063.2(OTOG):c.917C>A (p.Ala306Asp) rs61611064 0.12907
NM_001292063.2(OTOG):c.7645C>T (p.Leu2549=) rs11024350 0.11420
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.550G>A (p.Asp184Asn) rs748075389 0.00013

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