ClinVar Miner

List of variants studied for Deafness, autosomal recessive 8

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Total variants: 111
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HGVS dbSNP
NM_001256317.3(TMPRSS3):c.*189T>C
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838
NM_001256317.3(TMPRSS3):c.*334G>A
NM_001256317.3(TMPRSS3):c.*411C>A
NM_001256317.3(TMPRSS3):c.*429C>A
NM_001256317.3(TMPRSS3):c.*476C>T
NM_001256317.3(TMPRSS3):c.*492C>T
NM_001256317.3(TMPRSS3):c.*493C>T
NM_001256317.3(TMPRSS3):c.*53G>A
NM_001256317.3(TMPRSS3):c.*573C>T
NM_001256317.3(TMPRSS3):c.*664C>T
NM_001256317.3(TMPRSS3):c.*750C>A
NM_001256317.3(TMPRSS3):c.*755G>T
NM_001256317.3(TMPRSS3):c.*777G>T
NM_001256317.3(TMPRSS3):c.*782G>A
NM_001256317.3(TMPRSS3):c.*805T>C
NM_001256317.3(TMPRSS3):c.-34G>A rs73372256
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100
NM_001256317.3(TMPRSS3):c.-78T>A
NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala)
NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met)
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261
NM_001256317.3(TMPRSS3):c.1048+5G>A
NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=)
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751
NM_001256317.3(TMPRSS3):c.1344+8C>T
NM_001256317.3(TMPRSS3):c.1344+9G>A
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302
NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr)
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310
NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=)
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=)
NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=)
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564
NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=)
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.573-8C>T
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936
NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met)
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379
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_024022.3(TMPRSS3):c.*177A>C rs886057093
NM_024022.3(TMPRSS3):c.*191T>C rs116789917
NM_024022.3(TMPRSS3):c.*206A>G rs225309
NM_024022.3(TMPRSS3):c.*245C>T rs755324540
NM_024022.3(TMPRSS3):c.*246G>A rs57692239
NM_024022.3(TMPRSS3):c.*287C>T rs757369320
NM_024022.3(TMPRSS3):c.*397C>A rs886057092
NM_024022.3(TMPRSS3):c.*402C>T rs764929225
NM_024022.3(TMPRSS3):c.*407A>T rs145515753
NM_024022.3(TMPRSS3):c.*409C>T rs55954914
NM_024022.3(TMPRSS3):c.*477G>A rs537211737
NM_024022.3(TMPRSS3):c.*539C>T rs540533831
NM_024022.3(TMPRSS3):c.*540G>A rs144138830
NM_024022.3(TMPRSS3):c.*576G>A rs886057091
NM_024022.3(TMPRSS3):c.*692G>A rs886057090
NM_024022.3(TMPRSS3):c.*815A>G rs116974943
NM_024022.3(TMPRSS3):c.*81C>T rs766378265
NM_024022.3(TMPRSS3):c.-131G>C rs56369547
NM_024022.3(TMPRSS3):c.-36G>C rs186244930
NM_024022.3(TMPRSS3):c.-51-12T>C rs149439713
NM_024022.3(TMPRSS3):c.-79A>G rs771866484
NM_024022.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_024022.3(TMPRSS3):c.1194+10C>T rs201451028
NM_024022.3(TMPRSS3):c.1238G>A (p.Trp413Ter) rs778939088
NM_024022.3(TMPRSS3):c.1269C>T (p.Ile423=) rs372469227
NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys) rs565348874
NM_024022.3(TMPRSS3):c.17C>T (p.Pro6Leu) rs139865555
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024022.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512
NM_024022.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921
NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231
NM_024022.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033
NM_024022.3(TMPRSS3):c.617-3_617-2insTA rs1601523730
NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000
NM_024022.3(TMPRSS3):c.681G>A (p.Gln227=) rs201260442
NM_024022.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183
NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_024022.3(TMPRSS3):c.783-1G>T rs1237955948
NM_024022.4(TMPRSS3):c.1211C>T rs28939084
NM_032404.2(TMPRSS3):c.-74A>G rs387906915
NM_032405.2(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
TMPRSS3, 1-BP DEL, 207C
TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS
TMPRSS3, IVS4AS, G-A, -6

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