ClinVar Miner

List of variants reported as uncertain significance for atypical glycine encephalopathy by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro) rs201636712 0.00015
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.1119G>A (p.Glu373=) rs2154304521
NM_001024845.3(SLC6A9):c.1200+5G>A
NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)
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.1602C>T (p.Gly534=) rs2085936509
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.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.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.31-6251A>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.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.779G>A (p.Arg260His)

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