ClinVar Miner

List of variants in gene GSS reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304 0.00073
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256 0.00073
NM_000178.4(GSS):c.-46A>G rs886056642 0.00052
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949 0.00051
NM_000178.4(GSS):c.*68G>T rs36066003 0.00049
NM_000178.4(GSS):c.-80G>C rs570588543 0.00042
NM_000178.4(GSS):c.598G>A (p.Gly200Ser) rs193267972 0.00040
NM_000178.4(GSS):c.-16G>A rs575728230 0.00034
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) rs370351723 0.00034
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr) rs143974068 0.00021
NM_000178.4(GSS):c.*31C>T rs369754600 0.00018
NM_000178.4(GSS):c.911C>T (p.Thr304Ile) rs374498290 0.00009
NM_000178.4(GSS):c.*20G>C rs765434534 0.00008
NM_000178.4(GSS):c.834+4G>C rs201359061 0.00008
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) rs146267300 0.00007
NM_000178.4(GSS):c.-18A>G rs886056640 0.00006
NM_000178.4(GSS):c.1318G>A (p.Val440Met) rs371147790 0.00006
NM_000178.4(GSS):c.994C>T (p.Arg332Cys) rs568602749 0.00006
NM_000178.4(GSS):c.*181C>T rs773689812 0.00004
NM_000178.4(GSS):c.1234C>T (p.Arg412Trp) rs767231017 0.00004
NM_000178.4(GSS):c.355G>A (p.Val119Met) rs566549635 0.00004
NM_000178.4(GSS):c.989G>A (p.Arg330His) rs762639246 0.00004
NM_000178.4(GSS):c.*183C>T rs1443092820 0.00003
NM_000178.4(GSS):c.73C>T (p.Arg25Trp) rs930264754 0.00003
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009 0.00002
NM_000178.4(GSS):c.*185C>T rs2081370708 0.00001
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550 0.00001
NM_000178.4(GSS):c.1247C>T (p.Pro416Leu) rs751502937 0.00001
NM_000178.4(GSS):c.1316T>G (p.Leu439Arg) rs1367919471 0.00001
NM_000178.4(GSS):c.173C>T (p.Pro58Leu) rs112712286 0.00001
NM_000178.4(GSS):c.22C>T (p.Leu8Phe) rs1255925879 0.00001
NM_000178.4(GSS):c.394C>T (p.Arg132Cys) rs202195412 0.00001
NM_000178.4(GSS):c.415G>A (p.Ala139Thr) rs138119089 0.00001
NM_000178.4(GSS):c.548A>T (p.Asn183Ile) rs972702713 0.00001
NM_000178.4(GSS):c.689+3A>G rs760922408 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000178.4(GSS):c.874G>A (p.Ala292Thr) rs768462266 0.00001
NM_000178.4(GSS):c.*323G>A rs1017912804
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-45G>C rs1387349471
NM_000178.4(GSS):c.1118A>G (p.Asn373Ser)
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg) rs2081383041
NM_000178.4(GSS):c.1188C>G (p.Ile396Met)
NM_000178.4(GSS):c.119C>A (p.Thr40Asn)
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.1295_1296del (p.Tyr432fs) rs777065530
NM_000178.4(GSS):c.1301+5G>A
NM_000178.4(GSS):c.1309_1310del (p.Lys437fs) rs2081375033
NM_000178.4(GSS):c.1311G>C (p.Lys437Asn) rs2081374990
NM_000178.4(GSS):c.1333G>A (p.Val445Met)
NM_000178.4(GSS):c.14G>T (p.Trp5Leu) rs1196147286
NM_000178.4(GSS):c.154C>T (p.Leu52Phe)
NM_000178.4(GSS):c.298A>G (p.Thr100Ala)
NM_000178.4(GSS):c.305G>A (p.Arg102His)
NM_000178.4(GSS):c.383A>G (p.Tyr128Cys) rs762533768
NM_000178.4(GSS):c.400G>A (p.Ala134Thr)
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.494A>G (p.His165Arg) rs752047572
NM_000178.4(GSS):c.4G>A (p.Ala2Thr)
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.532A>G (p.Lys178Glu)
NM_000178.4(GSS):c.556A>C (p.Lys186Gln)
NM_000178.4(GSS):c.556A>G (p.Lys186Glu)
NM_000178.4(GSS):c.602C>T (p.Ser201Leu) rs1040178198
NM_000178.4(GSS):c.626T>C (p.Ile209Thr)
NM_000178.4(GSS):c.638A>C (p.Lys213Thr) rs1430307547
NM_000178.4(GSS):c.710G>A (p.Arg237Gln)
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) rs930264754
NM_000178.4(GSS):c.787G>A (p.Val263Met) rs1600381232
NM_000178.4(GSS):c.811A>G (p.Met271Val) rs1261304268
NM_000178.4(GSS):c.826A>G (p.Ser276Gly) rs992968304
NM_000178.4(GSS):c.833A>G (p.Gln278Arg) rs2081434339

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