List of variants in gene BTD reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
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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_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	rs765906887	0.00012
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)	rs1344607767
NM_001370658.1(BTD):c.203del (p.Gln68fs)	rs1575013953
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	rs750965140
NM_001370658.1(BTD):c.798del (p.Ala267fs)	rs1575029897

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