List of variants in gene SLC39A4 reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	rs121434287	0.00014
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	rs121434289	0.00002
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	rs121434292	0.00002
NM_130849.4(SLC39A4):c.475-19G>A	rs781908504	0.00001
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)	rs2130797713
NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs)	rs2130796648
NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg)	rs121434288
NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys)	rs121434290
NM_130849.4(SLC39A4):c.909G>C (p.Gln303His)	rs121434293
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)	rs2130798769
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)	rs121434291
SLC39A4, 2-KB DEL, UPSTREAM REGION

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