ClinVar Miner

List of variants reported as uncertain significance 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_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000051.4(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_001142864.4(PIEZO1):c.2664G>A (p.Glu888=)
NM_001142864.4(PIEZO1):c.6901_6912del (p.Leu2301_Thr2304del)
NM_001184900.3(CARD8):c.139A>G (p.Ser47Gly)
NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)
NM_001972.4(ELANE):c.113C>T (p.Pro38Leu)
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr) rs1380366925

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