List of variants in gene OTOA studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 70

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HGVS	dbSNP	gnomAD frequency
NM_144672.4(OTOA):c.605G>C (p.Arg202Pro)	rs142850013	0.00029
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro)	rs568139514	0.00019
NM_144672.4(OTOA):c.1429G>C (p.Ala477Pro)	rs55890908	0.00017
NM_144672.4(OTOA):c.1909T>C (p.Ser637Pro)	rs200269833	0.00013
NM_144672.4(OTOA):c.1073A>T (p.His358Leu)	rs548486726	0.00011
NM_144672.4(OTOA):c.1337A>G (p.Asn446Ser)	rs369648790	0.00009
NM_144672.4(OTOA):c.3079C>T (p.Arg1027Trp)	rs752661980	0.00008
NM_144672.4(OTOA):c.1424G>A (p.Arg475Lys)	rs747597113	0.00006
NM_144672.4(OTOA):c.1440G>T (p.Gln480His)	rs201185187	0.00006
NM_144672.4(OTOA):c.2389C>T (p.Arg797Trp)	rs755663127	0.00006
NM_144672.4(OTOA):c.1090G>A (p.Ala364Thr)	rs370590643	0.00005
NM_144672.4(OTOA):c.2945T>C (p.Leu982Pro)	rs775666721	0.00005
NM_144672.4(OTOA):c.1007A>G (p.Asn336Ser)	rs145119450	0.00004
NM_144672.4(OTOA):c.1219C>T (p.Pro407Ser)	rs772723589	0.00004
NM_144672.4(OTOA):c.1318A>C (p.Lys440Gln)	rs893825249	0.00004
NM_144672.4(OTOA):c.3070G>C (p.Ala1024Pro)	rs547739910	0.00004
NM_144672.4(OTOA):c.680C>A (p.Ser227Tyr)	rs150595232	0.00004
NM_144672.4(OTOA):c.1058T>C (p.Met353Thr)	rs746061127	0.00003
NM_144672.4(OTOA):c.1094G>A (p.Gly365Asp)	rs199538778	0.00003
NM_144672.4(OTOA):c.616G>A (p.Glu206Lys)	rs377502630	0.00003
NM_144672.4(OTOA):c.671C>T (p.Ser224Leu)	rs770178828	0.00003
NM_144672.4(OTOA):c.775T>C (p.Trp259Arg)	rs1476325639	0.00003
NM_144672.4(OTOA):c.1234G>A (p.Gly412Arg)	rs775318682	0.00002
NM_144672.4(OTOA):c.2042C>G (p.Thr681Ser)	rs377647690	0.00002
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)	rs767518359	0.00002
NM_144672.4(OTOA):c.1109A>G (p.Lys370Arg)	rs727505354	0.00001
NM_144672.4(OTOA):c.119C>T (p.Ala40Val)	rs201061211	0.00001
NM_144672.4(OTOA):c.1646A>G (p.Glu549Gly)	rs1333356513	0.00001
NM_144672.4(OTOA):c.1709G>C (p.Gly570Ala)	rs1017181428	0.00001
NM_144672.4(OTOA):c.1727T>C (p.Ile576Thr)	rs755291566	0.00001
NM_144672.4(OTOA):c.1886G>A (p.Arg629His)	rs755933684	0.00001
NM_144672.4(OTOA):c.2051T>C (p.Ile684Thr)	rs1232183406	0.00001
NM_144672.4(OTOA):c.2237C>T (p.Thr746Met)	rs768161528	0.00001
NM_144672.4(OTOA):c.3224G>A (p.Arg1075Gln)	rs1292292458	0.00001
NM_144672.4(OTOA):c.335A>G (p.Lys112Arg)	rs758593584	0.00001
NM_144672.4(OTOA):c.355C>T (p.Arg119Cys)	rs777388246	0.00001
NM_144672.4(OTOA):c.401A>G (p.Asp134Gly)	rs753359371	0.00001
NM_144672.4(OTOA):c.734C>T (p.Ala245Val)	rs751618666	0.00001
NM_144672.4(OTOA):c.889G>T (p.Val297Phe)	rs754571974	0.00001
NM_144672.4(OTOA):c.920C>T (p.Ala307Val)	rs777719065	0.00001
NM_144672.4(OTOA):c.1030A>G (p.Thr344Ala)	rs2507002443
NM_144672.4(OTOA):c.1112C>G (p.Ala371Gly)
NM_144672.4(OTOA):c.1151A>G (p.Asn384Ser)
NM_144672.4(OTOA):c.1160T>C (p.Leu387Pro)	rs2507015294
NM_144672.4(OTOA):c.1190T>G (p.Leu397Trp)
NM_144672.4(OTOA):c.1499C>T (p.Ala500Val)
NM_144672.4(OTOA):c.1658A>G (p.Lys553Arg)	rs2507039362
NM_144672.4(OTOA):c.1757C>G (p.Ala586Gly)
NM_144672.4(OTOA):c.181T>G (p.Ser61Ala)
NM_144672.4(OTOA):c.194C>T (p.Thr65Met)	rs140152105
NM_144672.4(OTOA):c.1991T>A (p.Val664Asp)	rs2507058783
NM_144672.4(OTOA):c.2020G>A (p.Asp674Asn)
NM_144672.4(OTOA):c.2021A>T (p.Asp674Val)
NM_144672.4(OTOA):c.2410C>G (p.Pro804Ala)
NM_144672.4(OTOA):c.2421C>A (p.Asp807Glu)
NM_144672.4(OTOA):c.274G>T (p.Val92Leu)
NM_144672.4(OTOA):c.2921T>C (p.Val974Ala)	rs1597868374
NM_144672.4(OTOA):c.3076C>T (p.Leu1026Phe)	rs1484148637
NM_144672.4(OTOA):c.3124A>C (p.Ile1042Leu)
NM_144672.4(OTOA):c.3182T>G (p.Leu1061Arg)
NM_144672.4(OTOA):c.3400A>C (p.Met1134Leu)
NM_144672.4(OTOA):c.461G>C (p.Gly154Ala)	rs1208308272
NM_144672.4(OTOA):c.463G>A (p.Val155Met)
NM_144672.4(OTOA):c.494A>C (p.Glu165Ala)	rs2506971102
NM_144672.4(OTOA):c.595C>T (p.Arg199Trp)
NM_144672.4(OTOA):c.714A>G (p.Ile238Met)
NM_144672.4(OTOA):c.795G>T (p.Met265Ile)	rs761754865
NM_144672.4(OTOA):c.806C>T (p.Ser269Leu)	rs201002358
NM_144672.4(OTOA):c.86G>A (p.Arg29Lys)	rs2141652614
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)	rs372826296

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