ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 8

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.*777G>T rs35447393 0.01161
NM_001256317.3(TMPRSS3):c.*815A>G rs116974943 0.00777
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.*492C>T rs115398434 0.00137
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
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.*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.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.*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.1019C>T (p.Thr340Met) rs200002841 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 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.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.411C>T (p.Tyr137=) rs142784113 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 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+5G>A rs1209308277
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg)
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.133C>A (p.Pro45Thr)
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) rs141682398
NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)
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.620G>A (p.Cys207Tyr)
NM_001256317.3(TMPRSS3):c.782+5G>C
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

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