List of variants in gene SLC19A3 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	rs121917884
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter)	rs713993048
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)	rs1695586409
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter)	rs1474448985

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