ClinVar Miner

List of variants studied for aural atresia, congenital by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_005786.6(TSHZ1):c.*1102C>T rs78988755
NM_005786.6(TSHZ1):c.*1212A>G rs75243027
NM_005786.6(TSHZ1):c.*148A>G rs561291332
NM_005786.6(TSHZ1):c.*36T>G rs183438152
NM_005786.6(TSHZ1):c.*441_*442dup rs777123658
NM_005786.6(TSHZ1):c.*442_*445del rs886054119
NM_005786.6(TSHZ1):c.*446del rs199890952
NM_005786.6(TSHZ1):c.*482A>C rs886054120
NM_005786.6(TSHZ1):c.*548T>C rs886054121
NM_005786.6(TSHZ1):c.*609A>C rs138461444
NM_005786.6(TSHZ1):c.*731T>C rs886054122
NM_005786.6(TSHZ1):c.*975G>T rs80211274
NM_005786.6(TSHZ1):c.-106C>A rs181312859
NM_005786.6(TSHZ1):c.-108C>T rs376999134
NM_005786.6(TSHZ1):c.-117C>T rs886054110
NM_005786.6(TSHZ1):c.-185G>C rs147012982
NM_005786.6(TSHZ1):c.-188C>G rs763707409
NM_005786.6(TSHZ1):c.-189G>A rs762506031
NM_005786.6(TSHZ1):c.-200dup rs369841992
NM_005786.6(TSHZ1):c.-225C>G rs569703158
NM_005786.6(TSHZ1):c.-235T>C rs75774220
NM_005786.6(TSHZ1):c.-248A>C rs886054109
NM_005786.6(TSHZ1):c.-267A>G rs886054108
NM_005786.6(TSHZ1):c.-328dup rs66582660
NM_005786.6(TSHZ1):c.-329_-328dup rs66582660
NM_005786.6(TSHZ1):c.-336A>G rs372174307
NM_005786.6(TSHZ1):c.-381T>C rs886054107
NM_005786.6(TSHZ1):c.-396C>T rs374781125
NM_005786.6(TSHZ1):c.-432del rs372787732
NM_005786.6(TSHZ1):c.-432dup rs372787732
NM_005786.6(TSHZ1):c.-433_-432dup rs372787732
NM_005786.6(TSHZ1):c.-439G>T rs530328522
NM_005786.6(TSHZ1):c.-443A>G rs376918326
NM_005786.6(TSHZ1):c.-443_-441del rs886054104
NM_005786.6(TSHZ1):c.-443_-442del rs376458726
NM_005786.6(TSHZ1):c.-443_-442dup rs376458726
NM_005786.6(TSHZ1):c.-443del rs886054105
NM_005786.6(TSHZ1):c.-444_-443insGG rs767833741
NM_005786.6(TSHZ1):c.-444dup rs767833741
NM_005786.6(TSHZ1):c.-445dup rs886054103
NM_005786.6(TSHZ1):c.-49G>T rs886054111
NM_005786.6(TSHZ1):c.-501A>G rs886054102
NM_005786.6(TSHZ1):c.-508G>A rs886054101
NM_005786.6(TSHZ1):c.-9A>G rs78788703
NM_005786.6(TSHZ1):c.1027C>T (p.Pro343Ser) rs200266026
NM_005786.6(TSHZ1):c.1029G>A (p.Pro343=) rs34095753
NM_005786.6(TSHZ1):c.1033G>A (p.Val345Ile) rs145008445
NM_005786.6(TSHZ1):c.111C>T (p.Ser37=) rs146693154
NM_005786.6(TSHZ1):c.1179C>T (p.Thr393=) rs73484103
NM_005786.6(TSHZ1):c.1206G>A (p.Ser402=) rs202060462
NM_005786.6(TSHZ1):c.1389T>C (p.Pro463=) rs3809997
NM_005786.6(TSHZ1):c.1390G>A (p.Val464Met) rs199588905
NM_005786.6(TSHZ1):c.1402G>A (p.Ala468Thr) rs33930274
NM_005786.6(TSHZ1):c.1404G>T (p.Ala468=) rs111329836
NM_005786.6(TSHZ1):c.1452C>T (p.Pro484=) rs886054113
NM_005786.6(TSHZ1):c.1689C>T (p.Gly563=) rs749431944
NM_005786.6(TSHZ1):c.169T>G (p.Cys57Gly) rs886054112
NM_005786.6(TSHZ1):c.1707C>T (p.Ser569=) rs375310680
NM_005786.6(TSHZ1):c.1708G>A (p.Ala570Thr) rs149729975
NM_005786.6(TSHZ1):c.1710C>T (p.Ala570=) rs766284453
NM_005786.6(TSHZ1):c.1743C>T (p.Ser581=) rs185067525
NM_005786.6(TSHZ1):c.1771G>A (p.Val591Met) rs200947838
NM_005786.6(TSHZ1):c.1806G>A (p.Thr602=) rs141313878
NM_005786.6(TSHZ1):c.180C>T (p.Ser60=) rs3826609
NM_005786.6(TSHZ1):c.1849_1851del (p.Glu617del) rs756583304
NM_005786.6(TSHZ1):c.1862T>C (p.Leu621Pro) rs55679337
NM_005786.6(TSHZ1):c.18G>A (p.Thr6=) rs575015971
NM_005786.6(TSHZ1):c.1907C>T (p.Pro636Leu) rs111787453
NM_005786.6(TSHZ1):c.2065A>C (p.Met689Leu) rs886054115
NM_005786.6(TSHZ1):c.2066T>C (p.Met689Thr) rs113033195
NM_005786.6(TSHZ1):c.2078C>T (p.Pro693Leu) rs370322226
NM_005786.6(TSHZ1):c.2129C>A (p.Thr710Asn) rs886054116
NM_005786.6(TSHZ1):c.2237C>G (p.Pro746Arg) rs141280995
NM_005786.6(TSHZ1):c.2263C>T (p.Arg755Cys) rs199676563
NM_005786.6(TSHZ1):c.2272T>C (p.Tyr758His) rs61732783
NM_005786.6(TSHZ1):c.2280C>T (p.Asn760=) rs3744910
NM_005786.6(TSHZ1):c.2283C>T (p.Ser761=) rs150411092
NM_005786.6(TSHZ1):c.2322G>A (p.Pro774=) rs139943074
NM_005786.6(TSHZ1):c.2361G>T (p.Leu787=) rs74530794
NM_005786.6(TSHZ1):c.2362C>T (p.Arg788Trp) rs771294029
NM_005786.6(TSHZ1):c.2371G>A (p.Ala791Thr) rs146956711
NM_005786.6(TSHZ1):c.2373A>G (p.Ala791=) rs78961991
NM_005786.6(TSHZ1):c.240C>T (p.Ser80=) rs144905081
NM_005786.6(TSHZ1):c.2496C>T (p.Asp832=) rs75790877
NM_005786.6(TSHZ1):c.2508G>A (p.Pro836=) rs34878160
NM_005786.6(TSHZ1):c.2546C>T (p.Pro849Leu) rs886054117
NM_005786.6(TSHZ1):c.2591G>A (p.Arg864Gln) rs150180967
NM_005786.6(TSHZ1):c.2634G>A (p.Pro878=) rs35073557
NM_005786.6(TSHZ1):c.2644G>C (p.Val882Leu) rs183334241
NM_005786.6(TSHZ1):c.2763G>C (p.Gly921=) rs768042138
NM_005786.6(TSHZ1):c.2817A>G (p.Thr939=) rs34602326
NM_005786.6(TSHZ1):c.2938C>T (p.Pro980Ser) rs141075503
NM_005786.6(TSHZ1):c.3006G>A (p.Ala1002=) rs118011606
NM_005786.6(TSHZ1):c.3045C>T (p.His1015=) rs762049001
NM_005786.6(TSHZ1):c.331C>A (p.Pro111Thr) rs138506259
NM_005786.6(TSHZ1):c.348C>G (p.Pro116=) rs143523598
NM_005786.6(TSHZ1):c.368C>T (p.Thr123Ile) rs112669427
NM_005786.6(TSHZ1):c.381G>A (p.Thr127=) rs370336035
NM_005786.6(TSHZ1):c.409A>G (p.Ser137Gly) rs201448115
NM_005786.6(TSHZ1):c.474A>G (p.Ala158=) rs148319172
NM_005786.6(TSHZ1):c.507T>C (p.Tyr169=) rs3744908
NM_005786.6(TSHZ1):c.627G>A (p.Ala209=) rs79904500
NM_005786.6(TSHZ1):c.642G>A (p.Val214=) rs148422389
NM_005786.6(TSHZ1):c.65C>T (p.Ala22Val) rs543956737
NM_005786.6(TSHZ1):c.714C>G (p.Thr238=) rs140283079
NM_005786.6(TSHZ1):c.771T>C (p.Asp257=) rs3744909
NM_005786.6(TSHZ1):c.925C>T (p.Arg309Trp) rs144240769
NM_005786.6(TSHZ1):c.930G>A (p.Ala310=) rs147846116
NM_005786.6(TSHZ1):c.945G>A (p.Ala315=) rs149658226

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