ClinVar Miner

List of variants reported as likely benign for arterial tortuosity syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395 0.00071
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) rs563376340 0.00061
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn) rs142402955 0.00034
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=) rs138679634 0.00029
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser) rs139117495 0.00024
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604 0.00019
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) rs148424607 0.00019
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) rs150800734 0.00015
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) rs370141550 0.00012
NM_030777.4(SLC2A10):c.1547+19G>A rs546525339 0.00011
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=) rs553831434 0.00008
NM_030777.4(SLC2A10):c.162G>C (p.Leu54=) rs778830075 0.00008
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396 0.00007
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) rs763889166 0.00007
NM_030777.4(SLC2A10):c.792T>C (p.His264=) rs377031320 0.00007
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) rs774586341 0.00006
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser) rs755339268 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=) rs368021257 0.00004
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr) rs746203433 0.00004
NM_030777.4(SLC2A10):c.807C>T (p.Ala269=) rs144705080 0.00004
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) rs377173165 0.00004
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=) rs756207829 0.00003
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=) rs150398871 0.00003
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=) rs1980421137 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=) rs890578209 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=) rs755109002 0.00003
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=) rs879632885 0.00002
NM_030777.4(SLC2A10):c.1412-13C>T rs371888996 0.00002
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=) rs745307904 0.00002
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu) rs777604168 0.00002
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=) rs199975775 0.00002
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=) rs760859018 0.00001
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) rs755654519 0.00001
NM_030777.4(SLC2A10):c.120T>C (p.Phe40=) rs202176956 0.00001
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=) rs778452693 0.00001
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=) rs1057524067 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) rs558894862 0.00001
NM_030777.4(SLC2A10):c.1411+12C>T rs762576278 0.00001
NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=) rs1457956300 0.00001
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=) rs1285063741 0.00001
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=) rs780076629 0.00001
NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=) rs548796220 0.00001
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251 0.00001
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=) rs1002286842 0.00001
NM_030777.4(SLC2A10):c.252G>A (p.Val84=) rs878855129 0.00001
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=) rs768512276 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=) rs770919957 0.00001
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=) rs776448517 0.00001
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=) rs201625851 0.00001
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=) rs374985824 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=) rs758420381 0.00001
NM_030777.4(SLC2A10):c.861C>G (p.Ala287=) rs747254570 0.00001
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) rs755197578 0.00001
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=) rs369162285 0.00001
NM_030777.4(SLC2A10):c.9C>T (p.His3=) rs1423610543 0.00001
NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=) rs892020307
NM_030777.4(SLC2A10):c.114T>G (p.Leu38=) rs2123042176
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=) rs371752807
NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)
NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=) rs1194888660
NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=) rs2123051382
NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)
NM_030777.4(SLC2A10):c.1288+19C>T
NM_030777.4(SLC2A10):c.1288+20A>G
NM_030777.4(SLC2A10):c.1288+9A>C
NM_030777.4(SLC2A10):c.1289-18C>G
NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)
NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=) rs201159437
NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=) rs2123053808
NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)
NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)
NM_030777.4(SLC2A10):c.1411+16A>G
NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=) rs1168833604
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=) rs375145963
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
NM_030777.4(SLC2A10):c.1547+14del
NM_030777.4(SLC2A10):c.1547+16G>A rs765696201
NM_030777.4(SLC2A10):c.1547+16G>C
NM_030777.4(SLC2A10):c.1547+17dup
NM_030777.4(SLC2A10):c.1548-9G>C
NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)
NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=) rs1060502314
NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)
NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)
NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)
NM_030777.4(SLC2A10):c.18T>C (p.Pro6=) rs1414654111
NM_030777.4(SLC2A10):c.192T>G (p.Val64=)
NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)
NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)
NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)
NM_030777.4(SLC2A10):c.252G>C (p.Val84=)
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=) rs747559824
NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)
NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)
NM_030777.4(SLC2A10):c.303G>T (p.Leu101=) rs527497095
NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)
NM_030777.4(SLC2A10):c.354T>G (p.Ala118=) rs2123044063
NM_030777.4(SLC2A10):c.4+10G>A rs1978796306
NM_030777.4(SLC2A10):c.4+14G>C
NM_030777.4(SLC2A10):c.4+14G>T
NM_030777.4(SLC2A10):c.4+9C>G rs1057521373
NM_030777.4(SLC2A10):c.411C>T (p.Ser137=) rs1979846423
NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)
NM_030777.4(SLC2A10):c.5-18C>T rs1600666278
NM_030777.4(SLC2A10):c.5-7T>G
NM_030777.4(SLC2A10):c.5-9_5-6del rs2123041402
NM_030777.4(SLC2A10):c.5-9_5-7del rs1600666288
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) rs540023880
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=) rs540023880
NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)
NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)
NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)
NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)
NM_030777.4(SLC2A10):c.615G>A (p.Glu205=) rs2123046162
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=) rs1222577461
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=) rs367742782
NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)
NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)
NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)
NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)
NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)
NM_030777.4(SLC2A10):c.816C>T (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.897G>A (p.Leu299=) rs1979908015
NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)
NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)

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