ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 1 by Illumina Laboratory Services, Illumina

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.*1041G>A rs6892185 0.17028
NM_005219.5(DIAPH1):c.*933T>A rs55798800 0.12974
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.*1347C>G rs251020 0.03385
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.*618G>C rs144081334 0.01207
NM_005219.5(DIAPH1):c.*1364T>C rs116342492 0.01140
NM_005219.5(DIAPH1):c.*1304A>G rs112580910 0.01086
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005219.5(DIAPH1):c.*1597G>A rs76801798 0.00643
NM_005219.5(DIAPH1):c.*217C>T rs55934506 0.00382
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.*1637G>C rs531768148 0.00164
NM_005219.5(DIAPH1):c.*1322C>G rs530260919 0.00149
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.-22G>T rs530831319 0.00122
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00115
NM_005219.5(DIAPH1):c.*16C>T rs202086273 0.00092
NM_005219.5(DIAPH1):c.*1557C>T rs566532178 0.00090
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00082
NM_005219.5(DIAPH1):c.*1607C>T rs527786719 0.00063
NM_005219.5(DIAPH1):c.*734C>T rs557696634 0.00059
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741 0.00046
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00032
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.*236T>C rs774939804 0.00026
NM_005219.5(DIAPH1):c.*709C>T rs186922755 0.00026
NM_005219.5(DIAPH1):c.*254G>A rs771538799 0.00025
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=) rs1215807447 0.00021
NM_005219.5(DIAPH1):c.300+12A>G rs201535699 0.00019
NM_005219.5(DIAPH1):c.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005219.5(DIAPH1):c.*870G>A rs558698891 0.00016
NM_005219.5(DIAPH1):c.*867G>A rs1044198282 0.00015
NM_005219.5(DIAPH1):c.*1395C>T rs886060027 0.00014
NM_005219.5(DIAPH1):c.-28G>C rs573787753 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.*1533C>T rs542820984 0.00012
NM_005219.5(DIAPH1):c.-27G>T rs749524827 0.00012
NM_005219.5(DIAPH1):c.*533G>A rs886060031 0.00009
NM_005219.5(DIAPH1):c.*701T>C rs886060030 0.00008
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837 0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) rs768743097 0.00008
NM_005219.5(DIAPH1):c.*325G>C rs558843739 0.00006
NM_005219.5(DIAPH1):c.*755T>C rs561468918 0.00006
NM_005219.5(DIAPH1):c.-49A>C rs570498572 0.00006
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040 0.00006
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.*811A>C rs891901311 0.00005
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.*39G>A rs375612034 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.*521G>A rs2099885681 0.00003
NM_005219.5(DIAPH1):c.620+8C>G rs759235916 0.00003
NM_005219.5(DIAPH1):c.621-4A>G rs772123724 0.00003
NM_005219.5(DIAPH1):c.*644C>T rs527315700 0.00002
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00002
NM_005219.5(DIAPH1):c.933+12C>T rs772703740 0.00002
NM_005219.5(DIAPH1):c.*1654C>G rs886060024 0.00001
NM_005219.5(DIAPH1):c.*724C>T rs1019753124 0.00001
NM_005219.5(DIAPH1):c.-85A>G rs886060036 0.00001
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) rs747462106 0.00001
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) rs746371106 0.00001
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) rs748806020 0.00001
NM_005219.5(DIAPH1):c.2474-11T>C rs1356596414 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) rs886060034 0.00001
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488 0.00001
NM_005219.5(DIAPH1):c.*1006T>C rs886060029
NM_005219.5(DIAPH1):c.*1309A>T rs1050712305
NM_005219.5(DIAPH1):c.*1337C>T rs886060028
NM_005219.5(DIAPH1):c.*1444T>G rs886060026
NM_005219.5(DIAPH1):c.*1544A>G rs886060025
NM_005219.5(DIAPH1):c.*224G>A rs182541836
NM_005219.5(DIAPH1):c.*332T>G rs927185230
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.-82G>A rs886060035
NM_005219.5(DIAPH1):c.1044+15T>C rs2099896276
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) rs753420499
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) rs764490603
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) rs1393807954
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys) rs2099895757
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln) rs2099895618
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg) rs2099895558
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) rs757635140
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr) rs1596340326
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro) rs764296073
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe) rs749871871
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=) rs1311391984
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg) rs2099896902
NM_005219.5(DIAPH1):c.825-3C>T rs2099896384
NM_005219.5(DIAPH1):c.933+5G>A rs2099896370
NM_005219.5(DIAPH1):c.934-3T>G rs886060033
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=) rs771490830

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