List of variants studied for inborn disorder of amino acid metabolism by GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies

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		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G	rs384573	1.00000
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000071.3(CBS):c.65A>G (p.His22Arg)	rs763151207	0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	rs370421531	0.00003
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)	rs1600158346
NM_000156.6(GAMT):c.570+1G>A	rs2144636105
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)	rs782433037
NM_005629.4(SLC6A8):c.1016+2T>C	rs1557045066
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)	rs1557045250
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)	rs80338740
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)	rs80338739
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup)	rs1603216676
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp)	rs1603216830
Single allele

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