ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564 0.56900
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501 0.49190
NM_001256317.3(TMPRSS3):c.*206A>G rs225309 0.35946
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838 0.17560
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500 0.16545
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181 0.12359
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302 0.08425
NM_001256317.3(TMPRSS3):c.*409C>T rs55954914 0.05821
NM_001256317.3(TMPRSS3):c.-34G>A rs73372256 0.05210
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100 0.02415
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001256317.3(TMPRSS3):c.*189T>C rs114813487 0.01262
NM_001256317.3(TMPRSS3):c.*777G>T rs35447393 0.01161
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_001256317.3(TMPRSS3):c.*191T>C rs116789917 0.00839
NM_001256317.3(TMPRSS3):c.*815A>G rs116974943 0.00777
NM_001256317.3(TMPRSS3):c.*246G>A rs57692239 0.00691
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237 0.00433
NM_001256317.3(TMPRSS3):c.*755G>T rs146774207 0.00408
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.*492C>T rs115398434 0.00137
NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512 0.00125
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) rs149919890 0.00098
NM_001256317.3(TMPRSS3):c.*476C>T rs555701604 0.00095
NM_001256317.3(TMPRSS3):c.*539C>T rs540533831 0.00076
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955 0.00066
NM_001256317.3(TMPRSS3):c.*477G>A rs537211737 0.00041
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910 0.00039
NM_001256317.3(TMPRSS3):c.*402C>T rs764929225 0.00035
NM_001256317.3(TMPRSS3):c.*53G>A rs137903612 0.00026
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310 0.00024
NM_001256317.3(TMPRSS3):c.-36G>C rs186244930 0.00023
NM_001256317.3(TMPRSS3):c.-78T>A rs557132994 0.00020
NM_001256317.3(TMPRSS3):c.*334G>A rs182472675 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_001256317.3(TMPRSS3):c.*245C>T rs755324540 0.00016
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936 0.00014
NM_001256317.3(TMPRSS3):c.*407A>T rs145515753 0.00013
NM_001256317.3(TMPRSS3):c.*411C>A rs140838491 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001256317.3(TMPRSS3):c.681G>A (p.Gln227=) rs201260442 0.00013
NM_001256317.3(TMPRSS3):c.*664C>T rs753514974 0.00012
NM_001256317.3(TMPRSS3):c.*805T>C rs771422917 0.00012
NM_001256317.3(TMPRSS3):c.1191+10C>T rs201451028 0.00012
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser) rs371448615 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001256317.3(TMPRSS3):c.*287C>T rs757369320 0.00010
NM_001256317.3(TMPRSS3):c.*573C>T rs1042336424 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408 0.00009
NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) rs147189374 0.00009
NM_001256317.3(TMPRSS3):c.1344+8C>T rs368075894 0.00008
NM_001256317.3(TMPRSS3):c.573-8C>T rs776871966 0.00007
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379 0.00007
NM_001256317.3(TMPRSS3):c.*692G>A rs886057090 0.00006
NM_001256317.3(TMPRSS3):c.-79A>G rs771866484 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=) rs200937562 0.00006
NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=) rs756432794 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001256317.3(TMPRSS3):c.*540G>A rs144138830 0.00003
NM_001256317.3(TMPRSS3):c.*81C>T rs766378265 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr) rs142317371 0.00003
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000 0.00003
NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) rs200002841 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) rs758738833 0.00002
NM_001256317.3(TMPRSS3):c.*429C>A rs760132655 0.00001
NM_001256317.3(TMPRSS3):c.*493C>T rs146497192 0.00001
NM_001256317.3(TMPRSS3):c.-51-12T>C rs149439713 0.00001
NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) rs369161852 0.00001
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.1344+9G>A rs200739633 0.00001
NM_001256317.3(TMPRSS3):c.17C>T (p.Pro6Leu) rs139865555 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) rs142784113 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001256317.3(TMPRSS3):c.*177A>C rs886057093
NM_001256317.3(TMPRSS3):c.*397C>A rs886057092
NM_001256317.3(TMPRSS3):c.*576G>A rs886057091
NM_001256317.3(TMPRSS3):c.*750C>A rs2052343735
NM_001256317.3(TMPRSS3):c.*782G>A rs1413686744
NM_001256317.3(TMPRSS3):c.-131G>C rs56369547
NM_001256317.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_001256317.3(TMPRSS3):c.1048+5G>A rs1209308277
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg)
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.1235G>A (p.Trp412Ter) rs778939088
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.133C>A (p.Pro45Thr)
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) rs2146452391
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly) rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) rs141682398
NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) rs2052672053
NM_001256317.3(TMPRSS3):c.446+41_446+44del
NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) rs2052620435
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr)
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) rs2146436212
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) rs2052560214
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001256317.3(TMPRSS3):c.782+5G>C
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_024009.3(GJB3):c.652del (p.Leu218fs)
NM_024022.2(TMPRSS3):c.-178A>C rs886057094
NM_024022.2(TMPRSS3):c.-182G>A rs147296608
NM_024022.2(TMPRSS3):c.-198G>A rs56100074
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024022.4:c.1180_1187delinsN1234

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