ClinVar Miner

List of variants in gene RET reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 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_020975.6(RET):c.1001G>A (p.Trp334Ter)
NM_020975.6(RET):c.1044_1051dup (p.Val351fs)
NM_020975.6(RET):c.1091_1104del (p.Ile364fs)
NM_020975.6(RET):c.1151del (p.Pro384fs) rs1837854100
NM_020975.6(RET):c.1160del (p.Gly387fs)
NM_020975.6(RET):c.1252C>T (p.Arg418Ter) rs2132747295
NM_020975.6(RET):c.1315C>T (p.Gln439Ter) rs2132767341
NM_020975.6(RET):c.1347C>A (p.Cys449Ter)
NM_020975.6(RET):c.1471C>T (p.Gln491Ter) rs1397494237
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1698del (p.Asp567fs)
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.1826G>C (p.Cys609Ser) rs77939446
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
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.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>G (p.Cys620Trp) rs79890926
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.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.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.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs)
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
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.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.2427C>A (p.Tyr809Ter) rs577929869
NM_020975.6(RET):c.255G>A (p.Trp85Ter)
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.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
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.538C>T (p.Arg180Ter) rs76449634
NM_020975.6(RET):c.936_939del (p.Arg312fs) rs1837778621

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