List of variants in gene SLC19A2 reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)	rs752104654	0.00002
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)	rs28937595	0.00001
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)	rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)	rs1553211899
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs)	rs1401027751
NM_006996.3(SLC19A2):c.1223+1G>A
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)	rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)	rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)	rs74315373
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)	rs763099442
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter)	rs1658342879
NM_006996.3(SLC19A2):c.725del (p.Pro242fs)	rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)	rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs)	rs1571532822

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