ClinVar Miner

List of variants studied for Familial medullary thyroid carcinoma

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
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_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
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_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00002
NM_020975.6(RET):c.1142T>G (p.Phe381Cys) rs139813765 0.00002
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) rs760625882 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_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.530G>A (p.Arg177Gln) rs759229505 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_001437.3(ESR2):c.1226-2A>T
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_020975.6(RET):c.1232C>G (p.Ser411Cys) rs2132746693
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) rs377767434
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) rs377767411
NM_020975.6(RET):c.1942G>T (p.Val648Phe) rs77711105
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) rs377767415
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp) rs945693739

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