ClinVar Miner

List of variants in gene ALB studied for hyperthyroxinemia

Included ClinVar conditions (4):
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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000477.7(ALB):c.1668C>T (p.Leu556=) rs962004 0.50892
NM_000477.7(ALB):c.615+14G>T rs55861135 0.03126
NM_000477.7(ALB):c.271-8C>T rs55888080 0.01379
NM_000477.7(ALB):c.616-3T>C rs61375018 0.00846
NM_000477.7(ALB):c.843+10C>T rs56379403 0.00821
NM_000477.7(ALB):c.1608T>C (p.Asp536=) rs56042353 0.00602
NM_000477.7(ALB):c.*19C>T rs61332165 0.00276
NM_000477.7(ALB):c.1290-6T>C rs57705126 0.00234
NM_000477.7(ALB):c.1785+7C>T rs141131597 0.00234
NM_000477.7(ALB):c.612A>G (p.Pro204=) rs58639526 0.00205
NM_000477.7(ALB):c.891T>C (p.Ser297=) rs56167251 0.00187
NM_000477.7(ALB):c.1230T>C (p.Asn410=) rs35683929 0.00173
NM_000477.7(ALB):c.531A>T (p.Glu177Asp) rs149432908 0.00056
NM_000477.7(ALB):c.323A>G (p.Tyr108Cys) rs142714816 0.00052
NM_000477.7(ALB):c.1446C>T (p.Asn482=) rs59597814 0.00049
NM_000477.7(ALB):c.1191+11T>A rs78977679 0.00025
NM_000477.7(ALB):c.1434C>T (p.Ser478=) rs139400924 0.00024
NM_000477.7(ALB):c.1647A>G (p.Lys549=) rs142299078 0.00013
NM_000477.7(ALB):c.1011G>T (p.Lys337Asn) rs72552710 0.00011
NM_000477.7(ALB):c.648G>A (p.Ser216=) rs140065129 0.00011
NM_000477.5(ALB):c.67C>T (p.Arg23Cys) rs80008208 0.00009
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000477.7(ALB):c.843+11G>A rs57193077 0.00008
NM_000477.7(ALB):c.*14A>C rs746946403 0.00006
NM_000477.7(ALB):c.1438G>A (p.Val480Ile) rs372174571 0.00005
NM_000477.7(ALB):c.1059-11A>G rs370277014 0.00004
NM_000477.7(ALB):c.109G>A (p.Asp37Asn) rs374543070 0.00003
NM_000477.7(ALB):c.1194C>T (p.Phe398=) rs770952660 0.00003
NM_000477.7(ALB):c.1472C>T (p.Thr491Met) rs776185501 0.00003
NM_000477.7(ALB):c.1150T>C (p.Cys384Arg) rs886059620 0.00002
NM_000477.7(ALB):c.1552G>A (p.Asp518Asn) rs75920790 0.00002
NM_000477.7(ALB):c.*270C>G rs1276240492 0.00001
NM_000477.7(ALB):c.1073A>G (p.Tyr358Cys) rs537985931 0.00001
NM_000477.7(ALB):c.1166A>T (p.Asp389Val) rs78538497 0.00001
NM_000477.7(ALB):c.1479A>G (p.Val493=) rs775238949 0.00001
NM_000477.7(ALB):c.1680G>A (p.Lys560=) rs57636959 0.00001
NM_000477.7(ALB):c.1706A>G (p.Lys569Arg) rs757783694 0.00001
NM_000477.7(ALB):c.1731T>A (p.Ala577=) rs564649737 0.00001
NM_000477.7(ALB):c.231T>C (p.Cys77=) rs773743765 0.00001
NM_000477.7(ALB):c.*209A>G rs1719136242
NM_000477.7(ALB):c.*88G>T rs11538204
NM_000477.7(ALB):c.1164A>G (p.Ala388=) rs17854155
NM_000477.7(ALB):c.1193T>C (p.Phe398Ser) rs1719009522
NM_000477.7(ALB):c.137+4A>C rs886059619
NM_000477.7(ALB):c.1429-9G>T rs373682659
NM_000477.7(ALB):c.1433C>G (p.Ser478Cys) rs1719060564
NM_000477.7(ALB):c.1508A>T (p.Glu503Val) rs886059621
NM_000477.7(ALB):c.1760A>G (p.Asp587Gly) rs1467772214
NM_000477.7(ALB):c.248C>G (p.Ala83Gly) rs200736287
NM_000477.7(ALB):c.248C>T (p.Ala83Val) rs200736287
NM_000477.7(ALB):c.269T>C (p.Leu90Pro) rs77892378
NM_000477.7(ALB):c.314G>A (p.Arg105His) rs764279820
NM_000477.7(ALB):c.725G>C (p.Arg242Pro) rs75002628
NM_000477.7(ALB):c.745A>C (p.Lys249Gln) rs79804069
NM_000477.7(ALB):c.913A>G (p.Lys305Glu) rs377046738

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