ClinVar Miner

List of variants reported as pathogenic for immune system disorder by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_004006.2:g.(?_89845141)_(89858973_?)del
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640

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