ClinVar Miner

List of variants studied for immune system disorder by Dr.Nikuei Genetic Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_000234.3(LIG1):c.848C>T (p.Pro283Leu)
NM_001243133.2(NLRP3):c.1021G>T (p.Glu341Ter)
NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)
NM_006432.5(NPC2):c.17_18insCAGGAAACGC (p.Thr7fs)

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