ClinVar Miner

List of variants reported as uncertain significance for Familial medullary thyroid carcinoma by Mendelics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00012
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180 0.00009
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) rs757031354 0.00004
NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu) rs779943666 0.00003
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00002
NM_001007792.1(NTRK1):c.10-562dup rs761392074 0.00001
NM_001007792.1(NTRK1):c.37del (p.Val13fs) rs1451820799 0.00001
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) rs761247634 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) rs1306924167 0.00001
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) rs547972574 0.00001
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237

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