ClinVar Miner

List of variants studied for thyroid gland disorder by Polak associated Lab, IMAGINE Institute

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) rs112749206 0.01445
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val) rs201808443 0.00030
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp) rs370991693 0.00003
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.7859G>A (p.Gly2620Asp) rs978923522 0.00001
NM_030773.4(TUBB1):c.479C>T (p.Pro160Leu) rs759117911 0.00001
NM_000441.2(SLC26A4):c.199A>C (p.Thr67Pro) rs1174526823
NM_001206744.2(TPO):c.1768+1_1768+9dup rs1385139268
NM_001206744.2(TPO):c.866T>C (p.Phe289Ser) rs1670028028
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_003235.5(TG):c.2134dup (p.Ala712fs) rs1815591671
NM_003235.5(TG):c.2234dup (p.Leu746fs) rs1815680018
NM_003235.5(TG):c.3452del (p.Val1151fs) rs766130576
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.649dup (p.Ala217fs) rs1814692109
NM_003466.4(PAX8):c.101T>A (p.Ile34Asn) rs1691361089
NM_003466.4(PAX8):c.397C>T (p.Arg133Trp) rs1690970101
NM_003466.4(PAX8):c.658C>T (p.Arg220Ter) rs1690853952
NM_030773.4(TUBB1):c.318C>G (p.Tyr106Ter) rs560702757

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