List of variants in gene SLC6A19 reported as 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	rs121434346	0.00168
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)	rs147837686	0.00031
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter)	rs121434347	0.00004
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs)	rs1561165786	0.00001
NM_001003841.3(SLC6A19):c.1173+2T>C
NM_001003841.3(SLC6A19):c.1173+2T>G	rs142979576
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)	rs762942358
NM_001003841.3(SLC6A19):c.1297_1300del (p.Phe433fs)
NM_001003841.3(SLC6A19):c.1341_1342del (p.Arg447fs)
NM_001003841.3(SLC6A19):c.1501G>A (p.Glu501Lys)
NM_001003841.3(SLC6A19):c.167G>A (p.Trp56Ter)
NM_001003841.3(SLC6A19):c.587G>A (p.Trp196Ter)

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