ClinVar Miner

List of variants in gene combination SP110, SP140 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_080424.4(SP110):c.522C>T (p.Pro174=) rs144428054 0.00137
NM_080424.4(SP110):c.451C>T (p.Pro151Ser) rs146515106 0.00053
NM_080424.4(SP110):c.459G>A (p.Ala153=) rs201957445 0.00029
NM_080424.4(SP110):c.339G>A (p.Gln113=) rs148356804 0.00012
NM_080424.4(SP110):c.75T>C (p.Tyr25=) rs41309082 0.00012
NM_080424.4(SP110):c.898+14A>G rs200753717 0.00011
NM_080424.4(SP110):c.69C>T (p.Ile23=) rs200563150 0.00008
NM_080424.4(SP110):c.237T>G (p.Ser79=) rs202135641 0.00007
NM_080424.4(SP110):c.981T>C (p.Cys327=) rs202198335 0.00006
NM_080424.4(SP110):c.144C>T (p.Tyr48=) rs201435337 0.00005
NM_080424.4(SP110):c.618G>A (p.Ala206=) rs372578277 0.00004
NM_080424.4(SP110):c.751+9G>T rs201731985 0.00004
NM_080424.4(SP110):c.126C>T (p.Ile42=) rs139246977 0.00003
NM_080424.4(SP110):c.414G>A (p.Ala138=) rs570329901 0.00003
NM_080424.4(SP110):c.780T>C (p.Asn260=) rs368772645 0.00003
NM_080424.4(SP110):c.1101G>A (p.Thr367=) rs200621430 0.00002
NM_080424.4(SP110):c.417G>A (p.Leu139=) rs769837823 0.00002
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.1048+16G>C rs1202943206 0.00001
NM_080424.4(SP110):c.1056T>C (p.Ile352=) rs749437023 0.00001
NM_080424.4(SP110):c.1092C>T (p.Ser364=) rs777870124 0.00001
NM_080424.4(SP110):c.189A>G (p.Arg63=) rs1335621440 0.00001
NM_080424.4(SP110):c.231C>T (p.Asn77=) rs754278979 0.00001
NM_080424.4(SP110):c.261A>G (p.Gln87=) rs1311849128 0.00001
NM_080424.4(SP110):c.294G>A (p.Thr98=) rs199925122 0.00001
NM_080424.4(SP110):c.317-9C>T rs369737388 0.00001
NM_080424.4(SP110):c.498C>T (p.Ser166=) rs763110758 0.00001
NM_080424.4(SP110):c.579T>C (p.Thr193=) rs1228225343 0.00001
NM_080424.4(SP110):c.583+16C>T rs1385377290 0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=) rs1167489264 0.00001
NM_080424.4(SP110):c.1038G>A (p.Ser346=) rs7606916
NM_080424.4(SP110):c.1048+9G>A
NM_080424.4(SP110):c.1049-16A>T
NM_080424.4(SP110):c.1049-8T>C
NM_080424.4(SP110):c.1129+16T>C
NM_080424.4(SP110):c.1129+18C>A
NM_080424.4(SP110):c.1129+7C>T
NM_080424.4(SP110):c.1129+9T>G rs760607836
NM_080424.4(SP110):c.1130-12T>C
NM_080424.4(SP110):c.138A>G (p.Arg46=)
NM_080424.4(SP110):c.150A>G (p.Glu50=)
NM_080424.4(SP110):c.186C>T (p.Ser62=)
NM_080424.4(SP110):c.21C>T (p.Ala7=)
NM_080424.4(SP110):c.222G>A (p.Arg74=)
NM_080424.4(SP110):c.316+19T>C
NM_080424.4(SP110):c.316+8G>A
NM_080424.4(SP110):c.317-15C>A
NM_080424.4(SP110):c.317-16C>T
NM_080424.4(SP110):c.318T>G (p.Val106=)
NM_080424.4(SP110):c.348C>T (p.Asp116=)
NM_080424.4(SP110):c.357C>A (p.Ile119=)
NM_080424.4(SP110):c.420C>T (p.Pro140=)
NM_080424.4(SP110):c.423A>G (p.Pro141=) rs371294585
NM_080424.4(SP110):c.42G>A (p.Gln14=)
NM_080424.4(SP110):c.432C>A (p.Pro144=)
NM_080424.4(SP110):c.441A>G (p.Pro147=)
NM_080424.4(SP110):c.459G>T (p.Ala153=)
NM_080424.4(SP110):c.507C>T (p.Ile169=)
NM_080424.4(SP110):c.583+19C>A rs199743792
NM_080424.4(SP110):c.584-18T>C
NM_080424.4(SP110):c.606C>A (p.Ser202=)
NM_080424.4(SP110):c.660T>C (p.Thr220=) rs201655540
NM_080424.4(SP110):c.667+14G>T
NM_080424.4(SP110):c.668-16_668-15del
NM_080424.4(SP110):c.668-17T>A
NM_080424.4(SP110):c.751+12_751+16del
NM_080424.4(SP110):c.751+16T>G
NM_080424.4(SP110):c.751+19A>G rs180811113
NM_080424.4(SP110):c.751+19A>T rs180811113
NM_080424.4(SP110):c.829+14T>C
NM_080424.4(SP110):c.829+15T>C rs372230531
NM_080424.4(SP110):c.830-12C>A
NM_080424.4(SP110):c.867A>G (p.Lys289=)
NM_080424.4(SP110):c.898+19A>G
NM_080424.4(SP110):c.918C>T (p.His306=)
NM_080424.4(SP110):c.927A>G (p.Gln309=) rs2148861745

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