ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 84B

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.2519-31A>G rs4483657 0.71868
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00038
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met) rs571909899 0.00015
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.5050G>A (p.Gly1684Arg) rs778223464 0.00002
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378609.3(OTOGL):c.2391-2A>G rs374272301 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr) rs1230531336 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.5265+5G>A rs902734999 0.00001
NM_001378609.3(OTOGL):c.6429G>A (p.Glu2143=) rs777315488 0.00001
GRCh37/hg19 12q21.31(chr12:80696112-80696398)x1
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys) rs1886838397
NM_001378609.3(OTOGL):c.3702G>A (p.Met1234Ile) rs1207446497
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4279+1G>A rs2137876491
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter) rs1477766714
NM_001378609.3(OTOGL):c.5067T>C (p.Asp1689=) rs1888797330
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter) rs2137943672
NM_001378609.3(OTOGL):c.5957G>A (p.Arg1986Lys) rs1440977583
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter) rs2138034575
NM_001378609.3(OTOGL):c.6122-1G>A rs952235302
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter) rs1343148883
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
Single allele

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