ClinVar Miner

List of variants reported as uncertain significance for congenital hypothyroidism by Counsyl

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143 0.00006
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.501_502insCAA (p.Asn167_Gly168insGln) rs758521444 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1438-7del rs753586849
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) rs147733656
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del) rs1554362748
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) rs1387758666
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) rs1554363275
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) rs1554363304
NM_000441.2(SLC26A4):c.2320-1G>A rs1554363892
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) rs532132864
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) rs1554354367
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) rs1554354370
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) rs751256128
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) rs1554354382
NM_000441.2(SLC26A4):c.415+5_415+10del rs766751379
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) rs1554352212
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) rs1434359940
NM_000441.2(SLC26A4):c.765+4A>C rs774353111
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln) rs867212046

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