List of variants in gene SLC52A2 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)	rs148234606	0.00008
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)	rs398124641	0.00006
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)	rs375088539	0.00003
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe)	rs397514657	0.00001
NM_001363118.2(SLC52A2):c.-110-1G>A	rs1554853682
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter)	rs782095095

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