ClinVar Miner

List of variants in gene SLC17A8 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 79
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HGVS dbSNP
NM_139319.3(SLC17A8):c.*1077A>G
NM_139319.3(SLC17A8):c.*1090A>T
NM_139319.3(SLC17A8):c.*1140T>C rs886048795
NM_139319.3(SLC17A8):c.*1223T>A
NM_139319.3(SLC17A8):c.*1243A>C
NM_139319.3(SLC17A8):c.*1295T>C rs139917587
NM_139319.3(SLC17A8):c.*1306C>T rs886048796
NM_139319.3(SLC17A8):c.*1486A>G rs886048797
NM_139319.3(SLC17A8):c.*1502T>G rs886048801
NM_139319.3(SLC17A8):c.*1587A>G rs886048802
NM_139319.3(SLC17A8):c.*1716C>T rs886048803
NM_139319.3(SLC17A8):c.*178G>A rs878879094
NM_139319.3(SLC17A8):c.*1839A>G
NM_139319.3(SLC17A8):c.*1883T>C
NM_139319.3(SLC17A8):c.*209T>C
NM_139319.3(SLC17A8):c.*244G>A rs886048791
NM_139319.3(SLC17A8):c.*335C>T rs886048792
NM_139319.3(SLC17A8):c.*357A>G rs886048793
NM_139319.3(SLC17A8):c.*39A>C rs11568537
NM_139319.3(SLC17A8):c.*473T>C
NM_139319.3(SLC17A8):c.*480C>T
NM_139319.3(SLC17A8):c.*507G>A rs73376066
NM_139319.3(SLC17A8):c.*534T>C rs147059443
NM_139319.3(SLC17A8):c.*540A>G
NM_139319.3(SLC17A8):c.*541G>C
NM_139319.3(SLC17A8):c.*542G>A
NM_139319.3(SLC17A8):c.*671C>T
NM_139319.3(SLC17A8):c.*715A>C rs886048794
NM_139319.3(SLC17A8):c.*71T>C rs75599713
NM_139319.3(SLC17A8):c.*817A>T rs56156523
NM_139319.3(SLC17A8):c.-218T>C rs10860582
NM_139319.3(SLC17A8):c.-246T>C
NM_139319.3(SLC17A8):c.-295C>G
NM_139319.3(SLC17A8):c.-311G>A
NM_139319.3(SLC17A8):c.-32T>G rs760431477
NM_139319.3(SLC17A8):c.-72A>T
NM_139319.3(SLC17A8):c.-88A>C rs780354237
NM_139319.3(SLC17A8):c.-93A>G
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) rs138984845
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) rs142232146
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn)
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr)
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly)
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys)
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) rs886048789
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu)
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His)
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr)
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val)
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg)
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) rs773887574
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) rs374356596
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) rs748939449
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546
NM_139319.3(SLC17A8):c.354+7A>T rs886048787
NM_139319.3(SLC17A8):c.355-4C>A rs11568531
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) rs752140106
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys)
NM_139319.3(SLC17A8):c.616dup (p.Met206fs)
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=)
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) rs372662765
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu)
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860
NM_139319.3(SLC17A8):c.903+1G>A rs1566400632
NM_139319.3(SLC17A8):c.903+5G>A
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) rs763702478
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) rs886048788

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