ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (908):
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ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NC_000021.9:g.(33336874_33344911)del
NC_000022.11:g.18948676_21110520del
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
NM_000061.3(BTK):c.588+2T>C
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) rs2144267361
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
Single allele

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