ClinVar Miner

List of variants in gene OTOF reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.*696A>G rs55744034 0.04838
NM_194248.3(OTOF):c.*697G>A rs60182448 0.04365
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371

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