ClinVar Miner

List of variants reported as likely pathogenic for lymphoid system disorder by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_000081.4(LYST):c.7291del (p.Leu2431fs)
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)
NM_005045.4(RELN):c.3136_3140del (p.Gly1046fs)
NM_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_015295.3(SMCHD1):c.424+1G>A rs1555625396
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_181784.3(SPRED2):c.89G>A (p.Trp30Ter)
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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