List of variants in gene DBT reported as uncertain significance by Counsyl

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	rs1131691488	0.00002
NM_001918.5(DBT):c.*358A>C	rs1553228540	0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	rs1490661508	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	rs767760099	0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)	rs398123673	0.00001
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	rs768389398
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	rs1553229654
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	rs749366506
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)	rs398123661
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	rs1553228626
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)	rs771945254
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)	rs761922057
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)	rs773087765
NM_001918.5(DBT):c.788T>C (p.Met263Thr)	rs1553230703
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)	rs746916491
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	rs775808731

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