List of variants in gene BTD reported as uncertain significance 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: 12

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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.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)	rs769903360	0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	rs104893692	0.00002
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)	rs886058115	0.00001
NM_001281723.3(BTD):c.-44G>T
NM_001370658.1(BTD):c.1180T>C (p.Tyr394His)
NM_001370658.1(BTD):c.163G>T (p.Ala55Ser)
NM_001370658.1(BTD):c.436G>A (p.Asp146Asn)
NM_001370658.1(BTD):c.684A>G (p.Ile228Met)	rs1131691897
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)	rs762757117

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