ClinVar Miner

List of variants reported as pathogenic for Creatine transporter deficiency by ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000023.11:g.153693904GGGCC[3]
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu) rs2148363661
NM_005629.4(SLC6A8):c.1206G>A (p.Trp402Ter)
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1235_1248del (p.Leu412fs)
NM_005629.4(SLC6A8):c.1299_1309del (p.Pro434fs)
NM_005629.4(SLC6A8):c.1318dup (p.Arg440fs)
NM_005629.4(SLC6A8):c.1324del (p.Gln442fs)
NM_005629.4(SLC6A8):c.1372_1375del (p.Asp458fs)
NM_005629.4(SLC6A8):c.1392+24_1393-30del
NM_005629.4(SLC6A8):c.1417_1420del (p.Phe473fs)
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter)
NM_005629.4(SLC6A8):c.1495+2T>G
NM_005629.4(SLC6A8):c.1495+5G>C
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter)
NM_005629.4(SLC6A8):c.1556_1557insTTTC (p.Met519fs)
NM_005629.4(SLC6A8):c.1667G>A (p.Trp556Ter)
NM_005629.4(SLC6A8):c.1690_1703del (p.Phe564fs)
NM_005629.4(SLC6A8):c.219del (p.Asn74fs)
NM_005629.4(SLC6A8):c.262+1G>T
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.462G>A (p.Trp154Ter)
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs) rs1557044442
NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter)
NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs)
NM_005629.4(SLC6A8):c.676G>T (p.Glu226Ter)
NM_005629.4(SLC6A8):c.786C>G (p.Tyr262Ter)
NM_005629.4(SLC6A8):c.856del (p.Leu286fs)
NM_005629.4(SLC6A8):c.859del (p.Asp287fs)
NM_005629.4(SLC6A8):c.878_879del (p.Leu293fs)
NM_005629.4(SLC6A8):c.913-1G>A
NM_005629.4(SLC6A8):c.917G>A (p.Trp306Ter)
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808

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.