ClinVar Miner

List of variants in gene SLC5A5 reported as uncertain significance for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000453.3(SLC5A5):c.*720G>A rs186287175 0.00822
NM_000453.3(SLC5A5):c.1058+8C>T rs189249326 0.00723
NM_000453.3(SLC5A5):c.839+11C>T rs182064161 0.00650
NM_000453.3(SLC5A5):c.*862C>T rs80177071 0.00639
NM_000453.3(SLC5A5):c.424-12C>A rs142231563 0.00627
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) rs45531732 0.00469
NM_000453.3(SLC5A5):c.*256T>C rs527241494 0.00440
NM_000453.3(SLC5A5):c.*130A>G rs532170177 0.00425
NM_000453.3(SLC5A5):c.*353C>T rs188334435 0.00270
NM_000453.3(SLC5A5):c.*830C>T rs138127009 0.00186
NM_000453.3(SLC5A5):c.*14C>T rs185148597 0.00168
NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe) rs140990171 0.00136
NM_000453.3(SLC5A5):c.*575G>A rs528150801 0.00100
NM_000453.3(SLC5A5):c.*1273A>G rs187096710 0.00094
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser) rs142014480 0.00051
NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=) rs145238835 0.00048
NM_000453.3(SLC5A5):c.1768-11C>T rs188874441 0.00040
NM_000453.3(SLC5A5):c.*1135C>T rs181799129 0.00038
NM_000453.3(SLC5A5):c.*17G>A rs371679177 0.00037
NM_000453.3(SLC5A5):c.-184C>T rs534574809 0.00028
NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) rs117626343 0.00024
NM_000453.3(SLC5A5):c.839+13G>A rs186878627 0.00021
NM_000453.3(SLC5A5):c.*1136G>A rs764090914 0.00016
NM_000453.3(SLC5A5):c.*277T>C rs148592461 0.00015
NM_000453.3(SLC5A5):c.*1248C>T rs76301117 0.00012
NM_000453.3(SLC5A5):c.*606C>T rs886054295 0.00011
NM_000453.3(SLC5A5):c.435C>T (p.Thr145=) rs780690857 0.00009
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) rs577226533 0.00007
NM_000453.3(SLC5A5):c.1725C>T (p.Ala575=) rs772716852 0.00006
NM_000453.3(SLC5A5):c.358-7C>A rs368445837 0.00006
NM_000453.3(SLC5A5):c.*161C>T rs886054284 0.00005
NM_000453.3(SLC5A5):c.*898G>A rs886054298 0.00005
NM_000453.3(SLC5A5):c.*1217A>G rs886054299 0.00004
NM_000453.3(SLC5A5):c.*343T>C rs886054292 0.00003
NM_000453.3(SLC5A5):c.*344C>T rs886054293 0.00003
NM_000453.3(SLC5A5):c.*410G>T rs1000543077 0.00003
NM_000453.3(SLC5A5):c.19G>A (p.Gly7Arg) rs371312154 0.00003
NM_000453.3(SLC5A5):c.657G>A (p.Val219=) rs201774834 0.00003
NM_000453.3(SLC5A5):c.*422C>G rs886054294 0.00002
NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=) rs775752734 0.00002
NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser) rs371763681 0.00002
NM_000453.3(SLC5A5):c.*1027A>G rs1044706320 0.00001
NM_000453.3(SLC5A5):c.*136C>G rs886054283 0.00001
NM_000453.3(SLC5A5):c.*228A>G rs1235485172 0.00001
NM_000453.3(SLC5A5):c.*339C>T rs886054291 0.00001
NM_000453.3(SLC5A5):c.*897C>T rs886054297 0.00001
NM_000453.3(SLC5A5):c.-53C>T rs886054281 0.00001
NM_000453.3(SLC5A5):c.1192T>C (p.Cys398Arg) rs1421358195 0.00001
NM_000453.3(SLC5A5):c.1643G>A (p.Cys548Tyr) rs1389518713 0.00001
NM_000453.3(SLC5A5):c.1768-10T>A rs770323479 0.00001
NM_000453.3(SLC5A5):c.1789G>A (p.Gly597Arg) rs536886161 0.00001
NM_000453.3(SLC5A5):c.252C>T (p.Gly84=) rs370383956 0.00001
NM_000453.3(SLC5A5):c.357+11G>A rs751413692 0.00001
NM_000453.3(SLC5A5):c.649C>T (p.Arg217Cys) rs779661677 0.00001
NM_000453.3(SLC5A5):c.663G>A (p.Thr221=) rs375564091 0.00001
NM_000453.3(SLC5A5):c.915G>A (p.Val305=) rs1484899161 0.00001
NM_000453.3(SLC5A5):c.958G>A (p.Ala320Thr) rs142127951 0.00001
NM_000453.3(SLC5A5):c.*1282C>A rs929190184
NM_000453.3(SLC5A5):c.*238C>A rs183947586
NM_000453.3(SLC5A5):c.*239C>G rs551427934
NM_000453.3(SLC5A5):c.*826C>A rs886054296
NM_000453.3(SLC5A5):c.-107C>A rs555308071
NM_000453.3(SLC5A5):c.-46G>A rs993887182
NM_000453.3(SLC5A5):c.1084A>T (p.Met362Leu) rs752274081
NM_000453.3(SLC5A5):c.1176C>T (p.Leu392=) rs2094322065
NM_000453.3(SLC5A5):c.1340C>G (p.Ala447Gly) rs577079350
NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys) rs757216908
NM_000453.3(SLC5A5):c.1651+7A>C rs2030014553
NM_000453.3(SLC5A5):c.17C>T (p.Thr6Ile) rs2094296184
NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala) rs1055928965
NM_000453.3(SLC5A5):c.357+5C>T rs886054282
NM_000453.3(SLC5A5):c.423+13G>A rs376277243
NM_000453.3(SLC5A5):c.672G>A (p.Gln224=) rs770491099

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