ClinVar Miner

List of variants studied for immune system disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_014339.7(IL17RA):c.932-10C>T rs2241046 0.81871
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_000732.6(CD3D):c.451-18T>G rs2276424 0.61431
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) rs3135932 0.11335
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_005045.4(RELN):c.10182-11G>A rs57844600 0.01613
NM_005045.4(RELN):c.8950+16G>A rs76565991 0.01546
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00648
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358 0.00074
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_005045.4(RELN):c.4937-4del rs35268159
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416

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