ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by MGZ Medical Genetics Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr)
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) rs104895276
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn) rs104895247
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_004523.4(KIF11):c.1703-1G>A
NM_006949.4(STXBP2):c.1279C>T (p.Gln427Ter)

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