ClinVar Miner

List of variants studied for hypothyroidism by 3billion, Medical Genetics

Included ClinVar conditions (41):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter) rs749174434 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg) rs753012199 0.00001
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) rs121908082 0.00001
NM_001363711.2(DUOX2):c.1552T>A (p.Trp518Arg) rs543781904 0.00001
NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) rs558919433 0.00001
NM_000369.5(TSHR):c.1777del (p.Ala593fs) rs2140112570
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg) rs2125001180
NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) rs2141144285
NM_001363711.2(DUOX2):c.425C>G (p.Pro142Arg) rs1894429162
NM_001363711.2(DUOX2):c.790del (p.Leu264fs) rs1894386318
NM_001555.5(IGSF1):c.3467T>A (p.Val1156Glu) rs2124080217
NM_003235.5(TG):c.3G>T (p.Met1Ile) rs2132013784
NM_004387.4(NKX2-5):c.335-204del rs1761374435
NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)

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