ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 16

Included ClinVar conditions (2):
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_153700.2(STRC):c.4842C>T (p.Phe1614=) rs3097773 0.29444
NM_153700.2(STRC):c.4878C>G (p.Leu1626=) rs12438025 0.22424
NM_153700.2(STRC):c.4845-13T>C rs12437957 0.22423
NM_153700.2(STRC):c.3893A>G (p.His1298Arg) rs2920780 0.22075
NM_153700.2(STRC):c.3702G>A (p.Glu1234=) rs62018890 0.15683
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_153700.2(STRC):c.4035G>C (p.Leu1345=) rs143345370 0.01824
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00486
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_153700.2(STRC):c.3555G>A (p.Leu1185=) rs2597064 0.00014
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00010
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
15q15.3 deletion
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NC_000015.10:g.(?_43890333)_(43893072_?)del
NC_000015.10:g.(?_43890333)_(43897714_?)del
NC_000015.10:g.(?_43890333)_(43940887_?)del
NC_000015.10:g.(?_43906612)_(43906674_)?del
NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NC_000015.9:g.(43851199_43890391)_(?_44038820)del
NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys) rs1555447608
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del) rs1567120678
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_153700.2(STRC):c.3499_4701+1del
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
NM_153700.2(STRC):c.3681+11G>A rs796781098
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.583C>T (p.Gln195Ter) rs774990944
NM_153700.2(STRC):c.64+1_3138+1del
Single allele

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