ClinVar Miner

List of variants studied for immune system disorder by Molecular Endocrinology Laboratory, Christian Medical College

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val) rs570925076 0.00007
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.7942-6dup rs2130785582
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala) rs2130828886

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