ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 6

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_147196.3(TMIE):c.*975G>A rs4683315 0.07485
NM_147196.3(TMIE):c.*695G>A rs77244938 0.05181
NM_147196.3(TMIE):c.*51C>T rs56002857 0.04613
NM_147196.3(TMIE):c.-37C>A rs530579940 0.01988
NM_147196.3(TMIE):c.*260C>A rs62246206 0.01904
NM_147196.3(TMIE):c.*642C>T rs78774613 0.00765
NM_147196.2(TMIE):c.-154G>A rs527373499 0.00318
NM_147196.3(TMIE):c.-73C>T rs560968971 0.00243
NM_147196.3(TMIE):c.*313C>T rs559640559 0.00088
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) rs188085072 0.00066
NM_147196.3(TMIE):c.*253G>A rs577029568 0.00055
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_147196.3(TMIE):c.*612C>T rs747060976 0.00046
NM_147196.3(TMIE):c.*767G>A rs557803959 0.00046
NM_147196.3(TMIE):c.*148A>G rs190002988 0.00040
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_147196.3(TMIE):c.*829G>T rs576080937 0.00032
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_147196.3(TMIE):c.*671G>A rs868569513 0.00016
NM_147196.3(TMIE):c.*905G>A rs886058576 0.00014
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00014
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_147196.3(TMIE):c.413C>T (p.Ala138Val) rs746977901 0.00004
NM_147196.3(TMIE):c.*687C>T rs886058575 0.00003
NM_147196.3(TMIE):c.*691G>A rs569720565 0.00002
NM_147196.3(TMIE):c.-8G>T rs1198696237 0.00002
NM_147196.3(TMIE):c.192G>A (p.Ser64=) rs367618669 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_147196.3(TMIE):c.*47T>A rs1700597797 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) rs1700477304 0.00001
NM_001370524.1(TMIE):c.-507_-66-2329del
NM_147196.3(TMIE):c.*719G>A rs558232024
NM_147196.3(TMIE):c.*803C>T rs1700608339
NM_147196.3(TMIE):c.*94A>C rs1700598410
NM_147196.3(TMIE):c.*974C>T rs971138956
NM_147196.3(TMIE):c.122_125del (p.Pro41fs) rs876661301
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs) rs876661301
NM_147196.3(TMIE):c.144A>G (p.Thr48=) rs886058573
NM_147196.3(TMIE):c.144_145del (p.Val49fs) rs1700545926
NM_147196.3(TMIE):c.148G>T (p.Val50Leu) rs567795032
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) rs267607120
NM_147196.3(TMIE):c.286C>T (p.Arg96Ter)
NM_147196.3(TMIE):c.361+1G>A
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_147196.3(TMIE):c.87_88insT (p.Val30fs)
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) rs1057517839
NM_147196.3(TMIE):c.94-2_98delinsC rs876657371

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