ClinVar Miner

List of variants studied for thyroid gland carcinoma by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_001079668.3(NKX2-1):c.463+4A>G rs1881201369
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs) rs2035064004
NM_020975.6(RET):c.1162G>T (p.Val388Phe) rs776223166
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.2313C>G (p.Asp771Glu) rs1838123343
NM_020975.6(RET):c.2631del (p.Arg878fs) rs1838178970

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