ClinVar Miner

List of variants reported as uncertain significance for thyroid gland disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3
NM_001079668.3(NKX2-1):c.463+4A>G rs1881201369
NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del) rs1670957669
NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys) rs1671335901
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.2313C>G (p.Asp771Glu) rs1838123343
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950

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