ClinVar Miner

List of variants studied for immune system disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_014639.4(SKIC3):c.-228+8T>C rs2560277 0.45198
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_153460.4(IL17RC):c.1522+1G>C rs148575246 0.00763
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala) rs149183052 0.00120
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) rs201638660 0.00025
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00024
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile) rs140664950 0.00011
NM_000271.5(NPC1):c.180+8C>T rs778096289 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_004946.3(DOCK2):c.2704-3C>T rs144101028 0.00006
NM_012452.3(TNFRSF13B):c.740C>T (p.Thr247Met) rs149635611 0.00006
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_001039569.2(AP1S3):c.248T>C (p.Ile83Thr) rs202157374 0.00002
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln) rs749727482 0.00002
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_001572.5(IRF7):c.709G>T (p.Gly237Trp) rs760665585 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000081.4(LYST):c.5634+11A>G
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000243.2:c.(?_911)_(1356_?)del
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_001002029.3:c.(?_3231)_(3387_?)del
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala) rs555169864
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_002872.5(RAC2):c.328A>G (p.Ile110Val) rs1248326902
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_006929.5(SKIC2):c.2341-1G>T rs1772848223
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.769+3A>G rs769979161
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_203447.4(DOCK8):c.4241+1G>A rs2131649330

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