ClinVar Miner

List of variants in gene C6 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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.107C>A (p.Ser36Ter) rs1329836511
NM_000065.5(C6):c.1816C>T (p.Arg606Ter)
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000065.5(C6):c.237del (p.Ile80fs) rs398122811
NM_000065.5(C6):c.828del (p.Ser277fs) rs372345940

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