List of variants reported as likely pathogenic for Creatine transporter deficiency by Invitae

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.1016+2T>C	rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del	rs2148363006
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)	rs1603217473
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del)	rs2091477188
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)	rs397515558
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)	rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.912+2T>G	rs2091466607

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