ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter) rs1329427406 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2246-1G>A
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_024570.4(RNASEH2B):c.64+2_64+6del
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138425.3(C12orf57):c.-279C>G rs180837208
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NR_023317.1(RNU7-1):n.30A>G rs781842057

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