List of variants in gene SERPINC1 reported as uncertain significance for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00171
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	rs121909548	0.00112
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00092
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)	rs143521873	0.00041
NM_000488.4(SERPINC1):c.-57G>A	rs372524963	0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)	rs61736655	0.00029
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)	rs370190321	0.00026
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)	rs772809607	0.00021
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys)	rs376752370	0.00013
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)	rs369524182	0.00009
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala)	rs531137446	0.00008
NM_000488.3(SERPINC1):c.-88G>A	rs376206880	0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)	rs372820797	0.00005
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile)	rs567550044	0.00005
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)	rs565091601	0.00004
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)	rs201541724	0.00004
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg)	rs778341415	0.00004
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His)	rs377588972	0.00004
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)	rs773254902	0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)	rs183416252	0.00003
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)	rs764695432	0.00002
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val)	rs886045594	0.00001
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys)	rs765761813	0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)	rs121909568	0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)	rs768704768	0.00001
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser)	rs376029223	0.00001
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)	rs774294043	0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr)	rs1445653081	0.00001
NM_000488.4(SERPINC1):c.408+4C>T	rs201551398	0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)	rs765445413	0.00001
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His)	rs878854020	0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr)	rs749510661	0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)	rs758087836	0.00001
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe)	rs1657686098	0.00001
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=)	rs200857896	0.00001
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)	rs773399107	0.00001
NC_000001.10:g.(?_173876568)_(173879100_?)dup
NC_000001.10:g.(?_173876568)_(173886568_?)dup
NM_000488.4(SERPINC1):c.-175_-174delTA
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val)	rs1657673747
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp)	rs878854018
NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys)
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn)	rs920003404
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
NM_000488.4(SERPINC1):c.1219-8A>G
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg)	rs2102773346
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr)	rs1008874845
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp)	rs121909550
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)	rs1572084546
NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)
NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)	rs1487411568
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys)	rs2102773041
NM_000488.4(SERPINC1):c.1351_1352dup (p.Ile452fs)
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1384T>C (p.Cys462Arg)
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser)	rs2102789848
NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His)	rs1657913203
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu)	rs2102789784
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile)	rs371222224
NM_000488.4(SERPINC1):c.365C>A (p.Thr122Asn)	rs1253864431
NM_000488.4(SERPINC1):c.391C>G (p.Leu131Val)
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His)	rs878854019
NM_000488.4(SERPINC1):c.408G>A (p.Glu136=)	rs763087077
NM_000488.4(SERPINC1):c.409-12del	rs201656611
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala)	rs1657792806
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)	rs121909563
NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro)	rs1657788029
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser)	rs483352847
NM_000488.4(SERPINC1):c.547T>C (p.Ser183Pro)	rs2102785961
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)	rs1572090114
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
NM_000488.4(SERPINC1):c.662G>C (p.Trp221Ser)	rs1553218111
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu)	rs1657744293
NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)	rs1572088824
NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys)	rs1572088737
NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val)	rs1404578967
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)

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