ClinVar Miner

List of variants in gene GSR studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_000637.5(GSR):c.334-4dup rs112134304 0.02050
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) rs75673983 0.00632
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_000637.5(GSR):c.1500G>A (p.Thr500=) rs368833049 0.00014
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_000637.5(GSR):c.1334C>T (p.Thr445Met) rs778165636 0.00006
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_000637.5(GSR):c.307G>A (p.Val103Met) rs745404470 0.00001
NM_000637.5(GSR):c.993G>A (p.Trp331Ter) rs1345036090 0.00001
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) rs1586033745
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
NM_000637.5(GSR):c.1286-229_*499del
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer)
NM_000637.5(GSR):c.372T>C (p.His124=)
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) rs150594097
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
NM_000637.5(GSR):c.512G>T (p.Arg171Leu) rs766106295
NM_000637.5(GSR):c.531G>T (p.Thr177=) rs147119692
NM_000637.5(GSR):c.640G>A (p.Gly214Ser)
NM_000637.5(GSR):c.698G>A (p.Arg233His) rs750234827
NM_000637.5(GSR):c.781A>G (p.Ile261Val)
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.