ClinVar Miner

List of variants reported as pathogenic for thyroid gland disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_000369.5(TSHR):c.1552G>T (p.Glu518Ter)
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter) rs1562839439
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001363711.2(DUOX2):c.3285_3286del (p.Ile1097fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001555.5(IGSF1):c.404_407del (p.Trp135fs)
NM_001555.5(IGSF1):c.461_486del (p.Gly154fs)
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys) rs876657395
NM_207581.4(DUOXA2):c.298del (p.Arg100fs)

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