ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438 0.00001
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268

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