ClinVar Miner

List of variants reported as benign for atypical glycine encephalopathy

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=) rs2248829 0.13947
NM_001024845.3(SLC6A9):c.1435+18C>T rs76038188 0.04923
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181 0.01110
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) rs76354303 0.00909
NM_001024845.3(SLC6A9):c.31-697C>G rs187474842 0.00742
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) rs72890664 0.00511
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612 0.00265
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) rs140091591 0.00180
NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=) rs150379192 0.00111
NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=) rs144741950 0.00038
NM_001024845.3(SLC6A9):c.1537-17A>G rs201703200 0.00004
NM_001024845.3(SLC6A9):c.1435+19G>A rs199700395
NM_001024845.3(SLC6A9):c.1436-11dup
NM_001024845.3(SLC6A9):c.1536+11_1536+30del rs549038505
NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) rs61741712

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