ClinVar Miner

List of variants reported as likely benign 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: 54
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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.*446del rs199890952
NM_005786.6(TSHZ1):c.-106C>A rs181312859
NM_005786.6(TSHZ1):c.-185G>C rs147012982
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.-9A>G rs78788703
NM_005786.6(TSHZ1):c.1027C>T (p.Pro343Ser) rs200266026
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.1390G>A (p.Val464Met) rs199588905
NM_005786.6(TSHZ1):c.1404G>T (p.Ala468=) rs111329836
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.1743C>T (p.Ser581=) rs185067525
NM_005786.6(TSHZ1):c.1806G>A (p.Thr602=) rs141313878
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.2066T>C (p.Met689Thr) rs113033195
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.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.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.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.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.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.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.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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