ClinVar Miner

List of variants in gene SLC6A9 reported as benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) rs76354303
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612
NM_001024845.3(SLC6A9):c.31-697C>G rs187474842
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) rs61741712
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) rs140091591
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) rs72890664
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181

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