List of variants in gene BTD reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	0.00167
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)	rs144901367	0.00012
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	rs397514405	0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)	rs372416959	0.00001
NM_001370658.1(BTD):c.1148T>G (p.Phe383Cys)	rs1553654029
NM_001370658.1(BTD):c.1278T>C (p.Leu426=)	rs1559600608
NM_001370658.1(BTD):c.1292G>T (p.Gly431Val)	rs397514419
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)	rs771537277
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)	rs397514429
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	rs397507171
NM_001370658.1(BTD):c.196A>G (p.Met66Val)	rs1553652148
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)	rs1553653070
NM_001370658.1(BTD):c.392A>G (p.Asp131Gly)	rs772266503
NM_001370658.1(BTD):c.64G>C (p.Ala22Pro)	rs761112772
NM_001370658.1(BTD):c.739G>T (p.Val247Leu)	rs1443274190

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