List of variants in gene XDH reported as pathogenic by Invitae

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_000379.4(XDH):c.2164A>T (p.Lys722Ter)	rs72549367	0.00004
NM_000379.4(XDH):c.2274del (p.Glu760fs)	rs760186813	0.00001
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter)	rs751921838	0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter)	rs119460972	0.00001
NC_000002.11:g.(?_31558824)_(31637532_?)del
NC_000002.11:g.(?_31588418)_(31589011_?)del
NM_000379.4(XDH):c.1343_1350del (p.Glu448fs)	rs2148776171
NM_000379.4(XDH):c.134del (p.Glu45fs)
NM_000379.4(XDH):c.140dup (p.Cys48fs)	rs773456900
NM_000379.4(XDH):c.1664dup (p.Ala556fs)
NM_000379.4(XDH):c.2473C>T (p.Arg825Ter)
NM_000379.4(XDH):c.2751dup (p.Pro918fs)
NM_000379.4(XDH):c.3507del (p.Gly1170fs)	rs1558674294
NM_000379.4(XDH):c.3711del (p.Ile1238fs)
NM_000379.4(XDH):c.547C>T (p.Gln183Ter)
NM_000379.4(XDH):c.575C>A (p.Ser192Ter)
NM_000379.4(XDH):c.598G>T (p.Glu200Ter)	rs2147994449
NM_000379.4(XDH):c.641del (p.Pro214fs)	rs778685046
NM_000379.4(XDH):c.751C>T (p.Gln251Ter)

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