ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter) rs142487599 0.00013
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)

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