ClinVar Miner

List of variants in gene SLC17A8 reported as uncertain significance for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.*534T>C rs147059443 0.00108
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_139319.3(SLC17A8):c.*542G>A rs190631201 0.00030
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) rs201679317 0.00027
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) rs138984845 0.00024
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) rs142232146 0.00022
NM_139319.3(SLC17A8):c.-88A>C rs780354237 0.00011
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) rs375018718 0.00009
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) rs374356596 0.00008
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_139319.3(SLC17A8):c.*357A>G rs886048793 0.00006
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) rs762876998 0.00006
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) rs752140106 0.00006
NM_139319.3(SLC17A8):c.*178G>A rs878879094 0.00004
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552 0.00004
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) rs748076639 0.00004
NM_139319.3(SLC17A8):c.*244G>A rs886048791 0.00003
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) rs199746996 0.00003
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) rs372662765 0.00003
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) rs748939449 0.00002
NM_139319.3(SLC17A8):c.*1077A>G rs1268202148 0.00001
NM_139319.3(SLC17A8):c.*1223T>A rs943950152 0.00001
NM_139319.3(SLC17A8):c.*1883T>C rs1440971881 0.00001
NM_139319.3(SLC17A8):c.*540A>G rs1374989730 0.00001
NM_139319.3(SLC17A8):c.*541G>C rs1231058954 0.00001
NM_139319.3(SLC17A8):c.-32T>G rs760431477 0.00001
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) rs760003512 0.00001
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) rs1168855290 0.00001
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) rs773887574 0.00001
NM_139319.3(SLC17A8):c.354+7A>T rs886048787 0.00001
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) rs1203098049 0.00001
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) rs751132044 0.00001
NM_139319.3(SLC17A8):c.*1140T>C rs886048795
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.*209T>C rs1056524938
NM_139319.3(SLC17A8):c.*335C>T rs886048792
NM_139319.3(SLC17A8):c.*671C>T rs1952943581
NM_139319.3(SLC17A8):c.*715A>C rs886048794
NM_139319.3(SLC17A8):c.-295C>G rs1952451063
NM_139319.3(SLC17A8):c.-311G>A rs575992309
NM_139319.3(SLC17A8):c.-72A>T rs1396619385
NM_139319.3(SLC17A8):c.-93A>G rs908755074
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) rs567965694
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) rs886048789
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) rs753249566
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) rs151213649
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) rs1952934512
NM_139319.3(SLC17A8):c.903+1G>A rs1566400632
NM_139319.3(SLC17A8):c.903+5G>A rs1408795860
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) rs763702478
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) rs886048788

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.