ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_144687.4(NLRP12):c.35G>A (p.Arg12His) rs376754003 0.00003
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr) rs749068539 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NM_000051.4(ATM):c.8152-260G>A
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter) rs2077018821
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer) rs1750932254
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)
NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del) rs1403147116
NR_023317.1(RNU7-1):n.23T>G

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