ClinVar Miner

List of variants in gene OTOF studied for not provided

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Total variants: 89
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HGVS dbSNP
GRCh37/hg19 2p23.3(chr2:26711829-26725045)x1
NC_000002.12:g.26461946G>A
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.-113G>A rs79734645
NM_194248.3(OTOF):c.-120G>T rs114469860
NM_194248.3(OTOF):c.-43T>A rs201812205
NM_194248.3(OTOF):c.1046-92A>T
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter) rs1558492758
NM_194248.3(OTOF):c.138+28T>G
NM_194248.3(OTOF):c.1397_1409del (p.Lys466fs) rs1064795376
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe)
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333
NM_194248.3(OTOF):c.234C>T (p.Ile78=)
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.2406+36G>A
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169
NM_194248.3(OTOF):c.2580C>A (p.Val860=)
NM_194248.3(OTOF):c.2580C>T (p.Val860=)
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764
NM_194248.3(OTOF):c.2882A>G (p.Gln961Arg) rs1358025747
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688
NM_194248.3(OTOF):c.327+10C>A rs377042002
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233
NM_194248.3(OTOF):c.328-59T>C
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622
NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln) rs759559737
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515
NM_194248.3(OTOF):c.3733+39C>T
NM_194248.3(OTOF):c.3734-10A>C rs73920284
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3894+22G>A
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111
NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) rs1131691695
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478
NM_194248.3(OTOF):c.4629-9C>T rs72853726
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430
NM_194248.3(OTOF):c.4894C>A (p.Pro1632Thr)
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228
NM_194248.3(OTOF):c.5083G>T (p.Asp1695Tyr) rs144422709
NM_194248.3(OTOF):c.509+10A>G rs76712142
NM_194248.3(OTOF):c.5097C>T (p.Ile1699=) rs12386239
NM_194248.3(OTOF):c.5160G>A (p.Thr1720=)
NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu) rs1085307832
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103
NM_194248.3(OTOF):c.5694C>T (p.Asn1898=)
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
NM_194248.3(OTOF):c.633G>C (p.Arg211=)
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682

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