List of variants in gene BTD reported as likely pathogenic by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	rs137877018	0.00010
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)	rs749460715	0.00001
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)	rs746099217	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	rs397514335
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	rs397514357
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	rs1057520533
NM_001370658.1(BTD):c.838A>C (p.Asn280His)	rs587783006
NM_001370658.1(BTD):c.896C>T (p.Ser299Phe)

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