List of variants in gene SLC52A2 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)	rs374071862	0.00005
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)	rs754320812	0.00004
NM_001363118.2(SLC52A2):c.376T>G (p.Cys126Gly)	rs781903086	0.00003
NM_001363118.2(SLC52A2):c.1244G>C (p.Gly415Ala)	rs782245545	0.00001
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr)	rs368924997	0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)	rs782345472	0.00001
NM_001363118.2(SLC52A2):c.107T>G (p.Val36Gly)	rs879253962
NM_001363118.2(SLC52A2):c.1087C>G (p.Pro363Ala)	rs1131691969
NM_001363118.2(SLC52A2):c.1140del (p.Leu381fs)	rs879254305
NM_001363118.2(SLC52A2):c.135G>T (p.Trp45Cys)	rs1064795599
NM_001363118.2(SLC52A2):c.154T>C (p.Ser52Pro)
NM_001363118.2(SLC52A2):c.227_247del (p.Asp76_Arg82del)	rs1554853875
NM_001363118.2(SLC52A2):c.917G>A (p.Gly306Glu)	rs781923855

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