ClinVar Miner

List of variants in gene TUBGCP6 reported as pathogenic for not provided

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.3090_3091del (p.Gly1032fs) rs1491234697 0.00003
NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs) rs764772232 0.00002
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter) rs1260456579 0.00001
NM_020461.4(TUBGCP6):c.181_182del (p.Met61fs) rs748511475 0.00001
NM_020461.4(TUBGCP6):c.1833+1G>A rs886041788 0.00001
NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter) rs776065095 0.00001
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975 0.00001
NM_020461.4(TUBGCP6):c.2221_2222del (p.Arg741fs) rs951221380 0.00001
NM_020461.4(TUBGCP6):c.4090_4091del (p.Ser1364fs) rs772772535 0.00001
NM_020461.4(TUBGCP6):c.766G>T (p.Glu256Ter) rs936296358 0.00001
NC_000022.10:g.(?_50678613)_(50678816_?)del
NC_000022.10:g.(?_50678613)_(50682888_?)del
NM_020461.4(TUBGCP6):c.1105dup (p.Ser369fs)
NM_020461.4(TUBGCP6):c.112A>T (p.Lys38Ter) rs2147222889
NM_020461.4(TUBGCP6):c.1314dup (p.Tyr439fs) rs1427049971
NM_020461.4(TUBGCP6):c.1320dup (p.Gln441fs) rs2147191670
NM_020461.4(TUBGCP6):c.1321C>T (p.Gln441Ter)
NM_020461.4(TUBGCP6):c.1389dup (p.Lys464fs)
NM_020461.4(TUBGCP6):c.1587del (p.Cys529fs) rs1555908577
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.166C>T (p.Gln56Ter)
NM_020461.4(TUBGCP6):c.1690C>T (p.Arg564Ter) rs868312344
NM_020461.4(TUBGCP6):c.1695dup (p.Lys566Ter)
NM_020461.4(TUBGCP6):c.1869del (p.Ile624fs) rs2147187702
NM_020461.4(TUBGCP6):c.1894del (p.Glu632fs) rs2147187633
NM_020461.4(TUBGCP6):c.1900A>T (p.Lys634Ter) rs770218767
NM_020461.4(TUBGCP6):c.1948del (p.Val650fs)
NM_020461.4(TUBGCP6):c.2064del (p.Ser688fs) rs2147185386
NM_020461.4(TUBGCP6):c.2078C>G (p.Ser693Ter) rs2147185153
NM_020461.4(TUBGCP6):c.2161C>T (p.Gln721Ter)
NM_020461.4(TUBGCP6):c.2234dup (p.Lys746fs) rs2147184688
NM_020461.4(TUBGCP6):c.2382dup (p.Leu795fs) rs2147182067
NM_020461.4(TUBGCP6):c.2484+1del rs2147181283
NM_020461.4(TUBGCP6):c.2503G>T (p.Glu835Ter) rs2147180901
NM_020461.4(TUBGCP6):c.2609del (p.Lys870fs) rs1276849158
NM_020461.4(TUBGCP6):c.268del (p.Glu90fs)
NM_020461.4(TUBGCP6):c.2793del (p.Ser932fs) rs1299462712
NM_020461.4(TUBGCP6):c.2793dup (p.Ser932fs) rs1299462712
NM_020461.4(TUBGCP6):c.2901_2902insCCTCACCTGCACCTCACCTGCACCA (p.Gly968fs)
NM_020461.4(TUBGCP6):c.2915dup (p.Ala973fs)
NM_020461.4(TUBGCP6):c.2939C>G (p.Ser980Ter) rs748016341
NM_020461.4(TUBGCP6):c.304del (p.Cys102fs)
NM_020461.4(TUBGCP6):c.3082C>T (p.Gln1028Ter) rs755344399
NM_020461.4(TUBGCP6):c.3166_3169delinsCCACGGGCAGGGTGGGTGGAACACCCACC (p.Val1056fs)
NM_020461.4(TUBGCP6):c.324dup (p.Ser109fs)
NM_020461.4(TUBGCP6):c.3392G>A (p.Trp1131Ter) rs766653635
NM_020461.4(TUBGCP6):c.3473G>A (p.Trp1158Ter) rs2064509262
NM_020461.4(TUBGCP6):c.3474G>A (p.Trp1158Ter)
NM_020461.4(TUBGCP6):c.3525_3526del (p.Ser1176fs) rs2064507825
NM_020461.4(TUBGCP6):c.3760dup (p.Glu1254fs)
NM_020461.4(TUBGCP6):c.3784_3802del (p.Thr1262fs) rs2147177418
NM_020461.4(TUBGCP6):c.3802_3803dup (p.His1269fs) rs2064500789
NM_020461.4(TUBGCP6):c.3841dup (p.Ala1281fs) rs753094803
NM_020461.4(TUBGCP6):c.3847_3848del (p.Ser1283fs) rs765535822
NM_020461.4(TUBGCP6):c.3887del (p.Ser1296fs) rs2147177201
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs) rs760024638
NM_020461.4(TUBGCP6):c.4067G>A (p.Trp1356Ter) rs967859778
NM_020461.4(TUBGCP6):c.4129_4130dup (p.Glu1378fs) rs946708699
NM_020461.4(TUBGCP6):c.4160_4164del (p.Asn1387fs)
NM_020461.4(TUBGCP6):c.4165_4166del (p.Gln1389fs) rs752869602
NM_020461.4(TUBGCP6):c.4175_4176del (p.Thr1392fs) rs754282574
NM_020461.4(TUBGCP6):c.4234C>T (p.Gln1412Ter) rs2147175251
NM_020461.4(TUBGCP6):c.4305C>G (p.Tyr1435Ter)
NM_020461.4(TUBGCP6):c.4306G>T (p.Glu1436Ter)
NM_020461.4(TUBGCP6):c.4374del (p.Val1459fs)
NM_020461.4(TUBGCP6):c.4562_4563dup (p.His1522fs)
NM_020461.4(TUBGCP6):c.4639C>T (p.Gln1547Ter) rs1244829942
NM_020461.4(TUBGCP6):c.4648G>T (p.Gly1550Ter) rs753188505
NM_020461.4(TUBGCP6):c.4852G>T (p.Glu1618Ter)
NM_020461.4(TUBGCP6):c.4990del (p.Arg1664fs)
NM_020461.4(TUBGCP6):c.5054_5055dup (p.Asn1686fs)
NM_020461.4(TUBGCP6):c.5128C>T (p.Gln1710Ter)
NM_020461.4(TUBGCP6):c.538C>T (p.Gln180Ter) rs143957857
NM_020461.4(TUBGCP6):c.911dup (p.Gly305fs)
NM_020461.4(TUBGCP6):c.912del (p.Gly305fs)
NM_020461.4(TUBGCP6):c.996dup (p.Leu333fs) rs2147200853

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