ClinVar Miner

List of variants in gene SLC52A2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) rs147954962 0.00148
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) rs138107380 0.00078
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625 0.00058
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) rs566858747 0.00031
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala) rs74445699 0.00018
NM_001363118.2(SLC52A2):c.1113G>A (p.Gly371=) rs149575570 0.00016
NM_001363118.2(SLC52A2):c.888C>T (p.Ala296=) rs375399467 0.00013
NM_001363118.2(SLC52A2):c.1106C>T (p.Ser369Leu) rs138160033 0.00012
NM_001363118.2(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476 0.00012
NM_001363118.2(SLC52A2):c.487C>T (p.Leu163=) rs781887989 0.00012
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) rs374612342 0.00011
NM_001363118.2(SLC52A2):c.920G>A (p.Arg307His) rs143091206 0.00011
NM_001363118.2(SLC52A2):c.863C>T (p.Ala288Val) rs764545993 0.00010
NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser) rs141698844 0.00009
NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=) rs200102613 0.00009
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_001363118.2(SLC52A2):c.266T>C (p.Met89Thr) rs782539355 0.00007
NM_001363118.2(SLC52A2):c.613G>A (p.Val205Ile) rs144883729 0.00006
NM_001363118.2(SLC52A2):c.835C>T (p.Leu279=) rs782298419 0.00006
NM_001363118.2(SLC52A2):c.915C>T (p.Tyr305=) rs575769956 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001363118.2(SLC52A2):c.1204C>T (p.Arg402Trp) rs371806077 0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075 0.00005
NM_001363118.2(SLC52A2):c.1021G>A (p.Gly341Ser) rs1055759976 0.00004
NM_001363118.2(SLC52A2):c.1307G>A (p.Arg436Lys) rs372200881 0.00004
NM_001363118.2(SLC52A2):c.244C>T (p.Arg82Trp) rs782293996 0.00004
NM_001363118.2(SLC52A2):c.433C>T (p.Arg145Trp) rs781916346 0.00004
NM_001363118.2(SLC52A2):c.606C>T (p.Ala202=) rs187632310 0.00004
NM_001363118.2(SLC52A2):c.627T>C (p.Ala209=) rs782019841 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys) rs1016614259 0.00003
NM_001363118.2(SLC52A2):c.478G>A (p.Val160Met) rs141953803 0.00003
NM_001363118.2(SLC52A2):c.948G>A (p.Leu316=) rs370929795 0.00003
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=) rs782168938 0.00002
NM_001363118.2(SLC52A2):c.1160C>G (p.Ser387Cys) rs1213343967 0.00002
NM_001363118.2(SLC52A2):c.1193A>G (p.His398Arg) rs891211384 0.00002
NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser) rs781993535 0.00002
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_001363118.2(SLC52A2):c.951C>T (p.Gly317=) rs543461928 0.00002
NM_001363118.2(SLC52A2):c.1178C>T (p.Ala393Val) rs782396304 0.00001
NM_001363118.2(SLC52A2):c.1225G>A (p.Gly409Ser) rs1216775653 0.00001
NM_001363118.2(SLC52A2):c.122T>C (p.Leu41Pro) rs1357218551 0.00001
NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=) rs527404024 0.00001
NM_001363118.2(SLC52A2):c.1304G>A (p.Ser435Asn) rs782453672 0.00001
NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile) rs781986043 0.00001
NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val) rs781884010 0.00001
NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=) rs201213634 0.00001
NM_001363118.2(SLC52A2):c.311C>A (p.Pro104Gln) rs782274380 0.00001
NM_001363118.2(SLC52A2):c.397C>A (p.Leu133Met) rs782582813 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001363118.2(SLC52A2):c.616G>A (p.Ala206Thr) rs782602991 0.00001
NM_001363118.2(SLC52A2):c.620C>T (p.Ser207Leu) rs1275276031 0.00001
NM_001363118.2(SLC52A2):c.740C>T (p.Ser247Phe) rs538577149 0.00001
NM_001363118.2(SLC52A2):c.823C>T (p.Arg275Cys) rs782627908 0.00001
NM_001363118.2(SLC52A2):c.864G>A (p.Ala288=) rs782702240 0.00001
NM_001363118.2(SLC52A2):c.893A>G (p.Gln298Arg) rs782673955 0.00001
NM_001363118.2(SLC52A2):c.1076T>C (p.Leu359Pro)
NM_001363118.2(SLC52A2):c.1087C>G (p.Pro363Ala) rs1131691969
NM_001363118.2(SLC52A2):c.1093C>G (p.Leu365Val)
NM_001363118.2(SLC52A2):c.1094T>G (p.Leu365Arg)
NM_001363118.2(SLC52A2):c.1097T>C (p.Val366Ala)
NM_001363118.2(SLC52A2):c.112G>C (p.Val38Leu)
NM_001363118.2(SLC52A2):c.1147C>G (p.Leu383Val)
NM_001363118.2(SLC52A2):c.1165G>A (p.Val389Met)
NM_001363118.2(SLC52A2):c.1199G>T (p.Gly400Val)
NM_001363118.2(SLC52A2):c.1201_1202delinsC (p.Gly401fs)
NM_001363118.2(SLC52A2):c.1261G>A (p.Val421Ile)
NM_001363118.2(SLC52A2):c.1330G>A (p.Asp444Asn)
NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu) rs1554853840
NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_001363118.2(SLC52A2):c.146C>T (p.Ser49Phe)
NM_001363118.2(SLC52A2):c.26C>G (p.Pro9Arg) rs782458266
NM_001363118.2(SLC52A2):c.287C>T (p.Ala96Val)
NM_001363118.2(SLC52A2):c.339CTT[1] (p.Phe114del) rs782498327
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_001363118.2(SLC52A2):c.365C>T (p.Ala122Val)
NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=) rs1200985633
NM_001363118.2(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_001363118.2(SLC52A2):c.425G>A (p.Arg142His) rs560681538
NM_001363118.2(SLC52A2):c.434G>A (p.Arg145Gln)
NM_001363118.2(SLC52A2):c.484G>A (p.Ala162Thr)
NM_001363118.2(SLC52A2):c.496G>A (p.Gly166Ser)
NM_001363118.2(SLC52A2):c.538A>C (p.Thr180Pro)
NM_001363118.2(SLC52A2):c.547C>G (p.Pro183Ala)
NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser)
NM_001363118.2(SLC52A2):c.659C>T (p.Pro220Leu)
NM_001363118.2(SLC52A2):c.665C>T (p.Pro222Leu)
NM_001363118.2(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_001363118.2(SLC52A2):c.673C>T (p.Pro225Ser)
NM_001363118.2(SLC52A2):c.689G>A (p.Gly230Glu)
NM_001363118.2(SLC52A2):c.724G>C (p.Glu242Gln)
NM_001363118.2(SLC52A2):c.764G>A (p.Ser255Asn)
NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His) rs144912258
NM_001363118.2(SLC52A2):c.824G>T (p.Arg275Leu) rs144912258
NM_001363118.2(SLC52A2):c.865C>T (p.Leu289=) rs797045201
NM_001363118.2(SLC52A2):c.889G>T (p.Val297Leu) rs782725706

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.