ClinVar Miner

List of variants studied for complement deficiency by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_001002029.3:c.(?_3231)_(3387_?)del

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