List of variants in gene SLC6A9 reported as uncertain significance for Atypical glycine encephalopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro)	rs201636712	0.00015
NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val)	rs146175246	0.00014
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)	rs201812410	0.00011
NM_001024845.3(SLC6A9):c.31-6217G>A	rs200633191	0.00010
NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His)	rs141553063	0.00008
NM_001024845.3(SLC6A9):c.490A>C (p.Asn164His)	rs199558856	0.00008
NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr)	rs141601886	0.00006
NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu)	rs373799403	0.00006
NM_001024845.3(SLC6A9):c.116C>T (p.Thr39Met)	rs200545935	0.00005
NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr)	rs2286247	0.00004
NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val)	rs200955940	0.00004
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu)	rs201065535	0.00004
NM_001024845.3(SLC6A9):c.774T>A (p.Phe258Leu)	rs199861598	0.00004
NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val)	rs756505420	0.00003
NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val)	rs1156758875	0.00002
NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln)	rs201783916	0.00002
NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His)	rs150135550	0.00002
NM_001024845.3(SLC6A9):c.31-6226C>T	rs202056254	0.00002
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys)	rs193921002	0.00002
NM_001024845.3(SLC6A9):c.754G>A (p.Val252Met)	rs200759556	0.00002
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln)	rs201870833	0.00002
NM_001024845.3(SLC6A9):c.1144C>T (p.Pro382Ser)	rs1336348098	0.00001
NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp)	rs755142891	0.00001
NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile)	rs756857614	0.00001
NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn)	rs1331993313	0.00001
NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val)	rs202156666	0.00001
NM_001024845.3(SLC6A9):c.31-6191C>T	rs200396487	0.00001
NM_001024845.3(SLC6A9):c.31-684G>T	rs1571886606	0.00001
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser)	rs143087050	0.00001
NM_001024845.3(SLC6A9):c.793G>A (p.Glu265Lys)	rs199830284	0.00001
NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile)	rs149105213
NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys)
NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe)
NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met)
NM_001024845.3(SLC6A9):c.1200+5G>A
NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)
NM_001024845.3(SLC6A9):c.1274C>A (p.Thr425Asn)
NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met)
NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)
NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg)	rs1557668170
NM_001024845.3(SLC6A9):c.1516G>A (p.Val506Ile)
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)	rs749973223
NM_001024845.3(SLC6A9):c.1537-1_1538dup
NM_001024845.3(SLC6A9):c.154C>T (p.Arg52Cys)
NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=)	rs2085936509
NM_001024845.3(SLC6A9):c.1639T>C (p.Ser547Pro)
NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)
NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe)	rs2154304007
NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)
NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)
NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)
NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)
NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)
NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)
NM_001024845.3(SLC6A9):c.188-7C>G
NM_001024845.3(SLC6A9):c.1880G>A (p.Arg627His)
NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)
NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)
NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val)
NM_001024845.3(SLC6A9):c.229G>A (p.Gly77Arg)	rs200456440
NM_001024845.3(SLC6A9):c.250G>A (p.Glu84Lys)
NM_001024845.3(SLC6A9):c.31-6206G>A
NM_001024845.3(SLC6A9):c.31-6212A>G
NM_001024845.3(SLC6A9):c.31-6218C>T
NM_001024845.3(SLC6A9):c.31-6221G>A
NM_001024845.3(SLC6A9):c.31-6241del	rs1460786911
NM_001024845.3(SLC6A9):c.31-6251A>G	rs1450790373
NM_001024845.3(SLC6A9):c.31-674G>A
NM_001024845.3(SLC6A9):c.31-676C>G
NM_001024845.3(SLC6A9):c.31-683C>G
NM_001024845.3(SLC6A9):c.31-717C>G	rs1321050627
NM_001024845.3(SLC6A9):c.31-731A>C	rs746124622
NM_001024845.3(SLC6A9):c.31-765G>C
NM_001024845.3(SLC6A9):c.31-821A>G
NM_001024845.3(SLC6A9):c.31-825G>A
NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys)
NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val)
NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu)
NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met)
NM_001024845.3(SLC6A9):c.484G>T (p.Ala162Ser)	rs200984575
NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys)
NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys)
NM_001024845.3(SLC6A9):c.508C>G (p.Arg170Gly)	rs774340135
NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp)
NM_001024845.3(SLC6A9):c.598G>T (p.Val200Leu)
NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg)
NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser)
NM_001024845.3(SLC6A9):c.641G>T (p.Arg214Leu)	rs201950352
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)	rs2086539962
NM_001024845.3(SLC6A9):c.658T>G (p.Cys220Gly)
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)
NM_001024845.3(SLC6A9):c.743C>T (p.Thr248Met)
NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)
NM_001024845.3(SLC6A9):c.939C>A (p.Asn313Lys)

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.