ClinVar Miner

List of variants studied for immune system disorder by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter) rs1166021430 0.00003
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln) rs1567659736
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_003824.3(FADD):c.[313T>C];[52_58delAGCGAGC]
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874

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