List of variants in gene SLC6A8 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg)	rs2148363200
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)	rs1557045250
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu)	rs2148363661
NM_005629.4(SLC6A8):c.1250G>A (p.Ser417Asn)	rs1057520594
NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs)	rs2091474187
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)	rs122453115
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del)	rs2091455264
NM_005629.4(SLC6A8):c.634G>A (p.Glu212Lys)
NM_005629.4(SLC6A8):c.644+3_644+6del	rs1064795351
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His)	rs2148362804
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His)	rs1064794836
NM_005629.4(SLC6A8):c.916T>C (p.Trp306Arg)	rs2091467425
NM_005629.4(SLC6A8):c.918_919del (p.Trp306fs)	rs2091467454
NM_005629.4(SLC6A8):c.924T>A (p.Asp308Glu)
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs)	rs1569539358

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