ClinVar Miner

List of variants in gene C6 reported as pathogenic

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000065.5(C6):c.1352dup (p.Tyr451Ter) rs779825789 0.00006
NM_000065.5(C6):c.654T>A (p.Cys218Ter) rs199946957 0.00003
NM_000065.5(C6):c.1066C>T (p.Arg356Ter) rs751375135 0.00002
NM_000065.5(C6):c.1816C>T (p.Arg606Ter) rs191386155 0.00001
NM_000065.5(C6):c.226C>T (p.Gln76Ter) rs1404303337 0.00001
NC_000005.9:g.(?_41199850)_(41203332_?)del
NM_000065.5(C6):c.107C>A (p.Ser36Ter) rs1329836511
NM_000065.5(C6):c.1251del (p.Glu417fs) rs2150301547
NM_000065.5(C6):c.1375A>T (p.Lys459Ter) rs1747532310
NM_000065.5(C6):c.145C>T (p.Gln49Ter) rs762098368
NM_000065.5(C6):c.1589del (p.Gly530fs) rs754001934
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs) rs894782145
NM_000065.5(C6):c.184G>T (p.Glu62Ter)
NM_000065.5(C6):c.1879_1881delinsAT (p.Asp627fs) rs2478412286
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000065.5(C6):c.2086del (p.Asp696fs) rs2150247662
NM_000065.5(C6):c.2304del (p.Lys768fs) rs1468759946
NM_000065.5(C6):c.2335C>T (p.Gln779Ter) rs754529564
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000065.5(C6):c.237del (p.Ile80fs) rs398122811
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer) rs749432203
NM_000065.5(C6):c.2416_2422dup (p.Asn808fs) rs2478197098
NM_000065.5(C6):c.2436_2440del (p.Ser813fs) rs777936780
NM_000065.5(C6):c.254del (p.Gly85fs) rs1297077142
NM_000065.5(C6):c.277dup (p.Cys93fs) rs2479143369
NM_000065.5(C6):c.343C>T (p.Gln115Ter)
NM_000065.5(C6):c.381C>A (p.Cys127Ter) rs1272010542
NM_000065.5(C6):c.420C>A (p.Cys140Ter) rs2479109570
NM_000065.5(C6):c.723del (p.Phe241fs) rs1013696001
NM_000065.5(C6):c.821_822del (p.Gln274fs)
NM_000065.5(C6):c.828del (p.Ser277fs) rs372345940
NM_000065.5(C6):c.828dup (p.Ser277fs) rs372345940
NM_000065.5(C6):c.87G>A (p.Trp29Ter) rs2479157275
NM_000065.5(C6):c.894del (p.Phe299fs) rs772825212
NM_000065.5(C6):c.901C>T (p.Gln301Ter) rs75870538

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