ClinVar Miner

List of variants in gene SLC52A2 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
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.1173G>A (p.Val391=) rs374011301 0.00025
NM_001363118.2(SLC52A2):c.1113G>A (p.Gly371=) rs149575570 0.00016
NM_001363118.2(SLC52A2):c.540C>A (p.Thr180=) rs782708300 0.00013
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.487C>T (p.Leu163=) rs781887989 0.00012
NM_001363118.2(SLC52A2):c.1074C>T (p.Val358=) rs142697341 0.00011
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) rs374612342 0.00011
NM_001363118.2(SLC52A2):c.384G>A (p.Ser128=) rs140003920 0.00011
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=) rs145009003 0.00011
NM_001363118.2(SLC52A2):c.370G>T (p.Ala124Ser) rs146274588 0.00010
NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=) rs200102613 0.00009
NM_001363118.2(SLC52A2):c.131-12C>T rs772839526 0.00008
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.1227C>T (p.Gly409=) rs147518188 0.00005
NM_001363118.2(SLC52A2):c.1001+9G>A rs369357625 0.00004
NM_001363118.2(SLC52A2):c.510C>T (p.Leu170=) rs782181319 0.00004
NM_001363118.2(SLC52A2):c.576C>T (p.Pro192=) rs782333547 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.1125+15A>C rs1157634743 0.00003
NM_001363118.2(SLC52A2):c.1224C>T (p.Ala408=) rs371456902 0.00003
NM_001363118.2(SLC52A2):c.1257C>T (p.Gly419=) rs199767089 0.00003
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=) rs184190914 0.00003
NM_001363118.2(SLC52A2):c.131-11C>G rs782241960 0.00003
NM_001363118.2(SLC52A2):c.528C>T (p.Pro176=) rs782121875 0.00003
NM_001363118.2(SLC52A2):c.852C>T (p.Ala284=) rs368287241 0.00003
NM_001363118.2(SLC52A2):c.948G>A (p.Leu316=) rs370929795 0.00003
NM_001363118.2(SLC52A2):c.1002-11G>A rs369561558 0.00002
NM_001363118.2(SLC52A2):c.1002-15del rs782455981 0.00002
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=) rs782168938 0.00002
NM_001363118.2(SLC52A2):c.1164C>T (p.Tyr388=) rs370533575 0.00002
NM_001363118.2(SLC52A2):c.1197C>T (p.Gly399=) rs144821688 0.00002
NM_001363118.2(SLC52A2):c.131-8C>T rs369154606 0.00002
NM_001363118.2(SLC52A2):c.177C>T (p.Asn59=) rs372988060 0.00002
NM_001363118.2(SLC52A2):c.471G>A (p.Leu157=) rs781811083 0.00002
NM_001363118.2(SLC52A2):c.861C>T (p.Asn287=) rs782362832 0.00002
NM_001363118.2(SLC52A2):c.951C>T (p.Gly317=) rs543461928 0.00002
NM_001363118.2(SLC52A2):c.1001+20C>T rs782320817 0.00001
NM_001363118.2(SLC52A2):c.1002-12C>T rs782803959 0.00001
NM_001363118.2(SLC52A2):c.1053C>A (p.Gly351=) rs1393988722 0.00001
NM_001363118.2(SLC52A2):c.1075C>T (p.Leu359=) rs1208675754 0.00001
NM_001363118.2(SLC52A2):c.1125+17A>G rs1470284068 0.00001
NM_001363118.2(SLC52A2):c.1126-8C>T rs374205790 0.00001
NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=) rs527404024 0.00001
NM_001363118.2(SLC52A2):c.1278G>A (p.Pro426=) rs782560735 0.00001
NM_001363118.2(SLC52A2):c.147T>C (p.Ser49=) rs782085386 0.00001
NM_001363118.2(SLC52A2):c.169C>T (p.Leu57=) rs782549718 0.00001
NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=) rs201213634 0.00001
NM_001363118.2(SLC52A2):c.219A>G (p.Pro73=) rs1586553168 0.00001
NM_001363118.2(SLC52A2):c.246G>A (p.Arg82=) rs1554853885 0.00001
NM_001363118.2(SLC52A2):c.327G>A (p.Leu109=) rs1466282450 0.00001
NM_001363118.2(SLC52A2):c.468G>T (p.Leu156=) rs781959767 0.00001
NM_001363118.2(SLC52A2):c.501G>A (p.Val167=) rs1818732919 0.00001
NM_001363118.2(SLC52A2):c.504C>T (p.Gly168=) rs1554854012 0.00001
NM_001363118.2(SLC52A2):c.534C>T (p.Asn178=) rs142879103 0.00001
NM_001363118.2(SLC52A2):c.615C>T (p.Val205=) rs549377529 0.00001
NM_001363118.2(SLC52A2):c.657G>A (p.Pro219=) rs141909863 0.00001
NM_001363118.2(SLC52A2):c.663A>G (p.Pro221=) rs1038513138 0.00001
NM_001363118.2(SLC52A2):c.679G>A (p.Gly227Arg) rs781816242 0.00001
NM_001363118.2(SLC52A2):c.711C>G (p.Ala237=) rs1024265039 0.00001
NM_001363118.2(SLC52A2):c.756G>A (p.Glu252=) rs1554854179 0.00001
NM_001363118.2(SLC52A2):c.783C>T (p.Thr261=) rs1281874988 0.00001
NM_001363118.2(SLC52A2):c.825C>T (p.Arg275=) rs934259287 0.00001
NM_001363118.2(SLC52A2):c.864G>A (p.Ala288=) rs782702240 0.00001
NM_001363118.2(SLC52A2):c.876C>T (p.Gly292=) rs782144205 0.00001
NM_001363118.2(SLC52A2):c.918G>A (p.Gly306=) rs149050347 0.00001
NM_001363118.2(SLC52A2):c.1001+18G>T
NM_001363118.2(SLC52A2):c.1002-17C>G
NM_001363118.2(SLC52A2):c.1002-18T>C
NM_001363118.2(SLC52A2):c.1002-7A>G
NM_001363118.2(SLC52A2):c.1017G>C (p.Leu339=)
NM_001363118.2(SLC52A2):c.1023C>A (p.Gly341=) rs567624974
NM_001363118.2(SLC52A2):c.1059G>A (p.Leu353=)
NM_001363118.2(SLC52A2):c.1059G>T (p.Leu353=) rs1818816659
NM_001363118.2(SLC52A2):c.1065G>A (p.Ala355=) rs200618841
NM_001363118.2(SLC52A2):c.108G>A (p.Val36=)
NM_001363118.2(SLC52A2):c.1092C>T (p.Pro364=) rs2130649884
NM_001363118.2(SLC52A2):c.1107G>A (p.Ser369=) rs1279173611
NM_001363118.2(SLC52A2):c.1116G>C (p.Val372=) rs200631895
NM_001363118.2(SLC52A2):c.111G>A (p.Val37=)
NM_001363118.2(SLC52A2):c.1125+7A>G rs781844159
NM_001363118.2(SLC52A2):c.1125+9_1125+10del rs782519794
NM_001363118.2(SLC52A2):c.1126-5C>T rs1554854547
NM_001363118.2(SLC52A2):c.1126-6C>T rs2130651167
NM_001363118.2(SLC52A2):c.1126-9C>T
NM_001363118.2(SLC52A2):c.1134G>A (p.Ser378=)
NM_001363118.2(SLC52A2):c.1152C>A (p.Gly384=)
NM_001363118.2(SLC52A2):c.1155G>A (p.Val385=) rs782258151
NM_001363118.2(SLC52A2):c.1200G>A (p.Gly400=)
NM_001363118.2(SLC52A2):c.1209G>T (p.Pro403=)
NM_001363118.2(SLC52A2):c.1212A>G (p.Ala404=)
NM_001363118.2(SLC52A2):c.1221A>T (p.Ala407=)
NM_001363118.2(SLC52A2):c.1233C>T (p.Ala411=)
NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=) rs1554853779
NM_001363118.2(SLC52A2):c.1249C>T (p.Leu417=)
NM_001363118.2(SLC52A2):c.1272C>T (p.Phe424=)
NM_001363118.2(SLC52A2):c.1275C>G (p.Pro425=) rs1818852282
NM_001363118.2(SLC52A2):c.1278G>C (p.Pro426=) rs782560735
NM_001363118.2(SLC52A2):c.130+13G>A rs1818673228
NM_001363118.2(SLC52A2):c.131-11C>T
NM_001363118.2(SLC52A2):c.131-16C>T rs2130636815
NM_001363118.2(SLC52A2):c.131-19C>T
NM_001363118.2(SLC52A2):c.131-7C>T rs782671203
NM_001363118.2(SLC52A2):c.1326C>T (p.Pro442=)
NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=) rs782361124
NM_001363118.2(SLC52A2):c.159G>C (p.Val53=)
NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=)
NM_001363118.2(SLC52A2):c.192G>C (p.Val64=) rs201246554
NM_001363118.2(SLC52A2):c.192G>T (p.Val64=) rs201246554
NM_001363118.2(SLC52A2):c.198C>T (p.Thr66=)
NM_001363118.2(SLC52A2):c.216C>T (p.Ala72=)
NM_001363118.2(SLC52A2):c.231G>A (p.Glu77=)
NM_001363118.2(SLC52A2):c.243C>T (p.Ile81=)
NM_001363118.2(SLC52A2):c.282G>T (p.Leu94=)
NM_001363118.2(SLC52A2):c.303T>C (p.His101=)
NM_001363118.2(SLC52A2):c.318A>G (p.Ala106=)
NM_001363118.2(SLC52A2):c.342C>T (p.Phe114=) rs1586553825
NM_001363118.2(SLC52A2):c.343T>C (p.Leu115=) rs1586553840
NM_001363118.2(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=) rs1200985633
NM_001363118.2(SLC52A2):c.414C>T (p.His138=) rs782420706
NM_001363118.2(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_001363118.2(SLC52A2):c.444C>T (p.Phe148=)
NM_001363118.2(SLC52A2):c.453A>G (p.Gln151=)
NM_001363118.2(SLC52A2):c.456C>T (p.Gly152=)
NM_001363118.2(SLC52A2):c.465C>T (p.Ala155=)
NM_001363118.2(SLC52A2):c.466C>T (p.Leu156=) rs1554853980
NM_001363118.2(SLC52A2):c.471G>C (p.Leu157=)
NM_001363118.2(SLC52A2):c.477C>T (p.Cys159=)
NM_001363118.2(SLC52A2):c.525C>A (p.Ala175=) rs1818735284
NM_001363118.2(SLC52A2):c.540C>T (p.Thr180=) rs782708300
NM_001363118.2(SLC52A2):c.549C>T (p.Pro183=)
NM_001363118.2(SLC52A2):c.552G>A (p.Pro184=) rs781807710
NM_001363118.2(SLC52A2):c.567G>A (p.Glu189=)
NM_001363118.2(SLC52A2):c.591C>T (p.Phe197=) rs1554854078
NM_001363118.2(SLC52A2):c.597A>C (p.Ala199=)
NM_001363118.2(SLC52A2):c.612G>C (p.Leu204=) rs1187056563
NM_001363118.2(SLC52A2):c.651G>T (p.Leu217=) rs782164243
NM_001363118.2(SLC52A2):c.660A>C (p.Pro220=)
NM_001363118.2(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_001363118.2(SLC52A2):c.681G>A (p.Gly227=) rs782456223
NM_001363118.2(SLC52A2):c.684G>A (p.Glu228=)
NM_001363118.2(SLC52A2):c.690A>C (p.Gly230=) rs1818762760
NM_001363118.2(SLC52A2):c.693A>G (p.Ser231=) rs1554854139
NM_001363118.2(SLC52A2):c.702G>A (p.Gln234=) rs1818764297
NM_001363118.2(SLC52A2):c.738G>A (p.Glu246=)
NM_001363118.2(SLC52A2):c.744A>G (p.Ser248=) rs1586556053
NM_001363118.2(SLC52A2):c.748C>T (p.Leu250=)
NM_001363118.2(SLC52A2):c.780C>T (p.Thr260=)
NM_001363118.2(SLC52A2):c.783C>G (p.Thr261=) rs1281874988
NM_001363118.2(SLC52A2):c.814C>T (p.Leu272=)
NM_001363118.2(SLC52A2):c.816A>G (p.Leu272=) rs1225050598
NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His) rs144912258
NM_001363118.2(SLC52A2):c.844C>T (p.Leu282=)
NM_001363118.2(SLC52A2):c.858C>T (p.Thr286=)
NM_001363118.2(SLC52A2):c.867G>A (p.Leu289=) rs2130646355
NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=) rs782390536
NM_001363118.2(SLC52A2):c.903C>T (p.Ser301=) rs782631231
NM_001363118.2(SLC52A2):c.922C>T (p.Leu308=) rs782731667
NM_001363118.2(SLC52A2):c.945G>T (p.Val315=)
NM_001363118.2(SLC52A2):c.957T>C (p.Ala319=)
NM_001363118.2(SLC52A2):c.978C>T (p.Phe326=) rs1272142641
NM_001363118.2(SLC52A2):c.979C>T (p.Leu327=) rs371669411

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