ClinVar Miner

List of variants in gene RET reported as pathogenic

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Total variants: 128
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HGVS dbSNP gnomAD frequency
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.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 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_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.4(RET):c.[2410G>A;2832C>G]
NM_020975.6(RET):c.1001G>A (p.Trp334Ter)
NM_020975.6(RET):c.1010_1017del (p.Glu337fs)
NM_020975.6(RET):c.1044_1051dup (p.Val351fs)
NM_020975.6(RET):c.1078C>T (p.Arg360Trp)
NM_020975.6(RET):c.1091_1104del (p.Ile364fs)
NM_020975.6(RET):c.1098G>C (p.Glu366Asp) rs1362164894
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1144C>T (p.Gln382Ter)
NM_020975.6(RET):c.1151del (p.Pro384fs) rs1837854100
NM_020975.6(RET):c.1160del (p.Gly387fs)
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_020975.6(RET):c.1252C>T (p.Arg418Ter) rs2132747295
NM_020975.6(RET):c.1280_1281del (p.Val427fs) rs1564494285
NM_020975.6(RET):c.1315C>T (p.Gln439Ter) rs2132767341
NM_020975.6(RET):c.1341del (p.Asn448fs)
NM_020975.6(RET):c.1347C>A (p.Cys449Ter)
NM_020975.6(RET):c.1425dup (p.Pro476fs) rs1554818540
NM_020975.6(RET):c.1471C>T (p.Gln491Ter) rs1397494237
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
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.1698del (p.Asp567fs)
NM_020975.6(RET):c.1740_1741dup (p.Cys581fs)
NM_020975.6(RET):c.1759+1G>A
NM_020975.6(RET):c.1783G>T (p.Glu595Ter) rs1483605155
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) rs77558292
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) rs77939446
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1827C>G (p.Cys609Trp) rs377767396
NM_020975.6(RET):c.1831T>A (p.Cys611Ser) rs377767391
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1831T>G (p.Cys611Gly) rs377767391
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1832G>T (p.Cys611Phe) rs377767397
NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr) rs377767398
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) rs76262710
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>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) rs79781594
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) rs77316810
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1860C>A (p.Cys620Ter)
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) rs79890926
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) rs377767405
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) rs377767406
NM_020975.6(RET):c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) rs377767436
NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser)
NM_020975.6(RET):c.1899_1900delinsTC (p.Cys634Arg)
NM_020975.6(RET):c.1900T>A (p.Cys634Ser) rs75076352
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu) rs1588874068
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1901_1902delinsTT (p.Cys634Phe)
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly)
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs)
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2041C>T (p.Gln681Ter)
NM_020975.6(RET):c.208C>T (p.Gln70Ter)
NM_020975.6(RET):c.2137-1G>A rs2132902301
NM_020975.6(RET):c.229C>T (p.Arg77Cys) rs1588862595
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter) rs553418132
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter) rs577929869
NM_020975.6(RET):c.255G>A (p.Trp85Ter)
NM_020975.6(RET):c.2586_2592del (p.Met862fs) rs794727130
NM_020975.6(RET):c.2631del (p.Arg878fs) rs1838178970
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2689C>T (p.Arg897Ter) rs1060500759
NM_020975.6(RET):c.268G>T (p.Glu90Ter) rs1588862638
NM_020975.6(RET):c.2715C>A (p.Tyr905Ter)
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer) rs794728691
NM_020975.6(RET):c.2846del (p.Gly949fs) rs794728689
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter)
NM_020975.6(RET):c.3100_3101del (p.Ser1034fs)
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter) rs767479170
NM_020975.6(RET):c.317G>A (p.Trp106Ter) rs2132664970
NM_020975.6(RET):c.318G>A (p.Trp106Ter) rs2132664999
NM_020975.6(RET):c.440_442del (p.Phe147del) rs1837660523
NM_020975.6(RET):c.45dup (p.Leu16fs)
NM_020975.6(RET):c.532dup (p.Glu178fs)
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_020975.6(RET):c.652_653dup (p.Asp219fs)
NM_020975.6(RET):c.668_669dup (p.Ser224Ter)
NM_020975.6(RET):c.712G>T (p.Glu238Ter) rs1588866040
NM_020975.6(RET):c.758dup (p.Val254fs)
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.890dup (p.Val298fs) rs886041443
NM_020975.6(RET):c.936_939del (p.Arg312fs) rs1837778621
NM_020975.6(RET):c.971G>A (p.Trp324Ter)
NM_020975.6(RET):c.99_100del (p.Asp34fs) rs1837613320

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