List of variants in gene SLC39A14 reported as pathogenic for Hypermanganesemia with dystonia 2

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001128431.4(SLC39A14):c.1066G>A (p.Gly356Ser)	rs774860376	0.00001
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)	rs1291490743	0.00001
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg)	rs879253766
NM_001128431.4(SLC39A14):c.1336C>T (p.Pro446Ser)	rs1015949817
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys)	rs750281602
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)	rs879253763
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)	rs879253764
NM_001128431.4(SLC39A14):c.751-9C>G	rs1039778197
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs)	rs879253765

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