List of variants reported as pathogenic for Creatine transporter deficiency by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)	rs782433037
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp)	rs122453116
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg)	rs122453114
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)	rs80338740
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)	rs122453118
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)	rs122453113
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)	rs122453115
NM_005629.4(SLC6A8):c.263-2A>G	rs1569539244
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)	rs122453117
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)	rs1569539359
R278C

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