ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency by New York Genome Center

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile) rs147150415 0.00073
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His) rs140362488 0.00066
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319 0.00053
NM_001290043.2(TAP2):c.1655A>G (p.Glu552Gly) rs151064661 0.00031
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) rs149225004 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_000246.4(CIITA):c.871G>A (p.Ala291Thr) rs377598648 0.00002
NM_001014987.2(LAT):c.233T>C (p.Leu78Pro) rs1342632805 0.00002
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly) rs887750833 0.00001
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu) rs759537311 0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) rs1041695603 0.00001
NM_001382567.1(STIM1):c.386-11734G>A rs1278421182 0.00001
NM_006785.4(MALT1):c.1898C>T (p.Thr633Ile) rs776118428 0.00001
NM_006785.4(MALT1):c.2290C>T (p.His764Tyr) rs574490390 0.00001
NM_000073.3(CD3G):c.187G>A (p.Gly63Ser) rs755334490
NM_001382567.1(STIM1):c.385+10749C>T rs763147075
NM_001382567.1(STIM1):c.386-7164T>A rs2094210478
NM_032790.4(ORAI1):c.129_131GCC[2][1] (p.Pro47_Ser48insPro) rs2136841703

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