List of variants in gene SLC9A6 reported by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001379110.1(SLC9A6):c.*8A>T	rs200171451	0.00157
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)	rs151178361	0.00022
NM_001379110.1(SLC9A6):c.1582-3C>T	rs563279759	0.00017
NM_001379110.1(SLC9A6):c.*12C>T	rs190788663	0.00010
NM_001379110.1(SLC9A6):c.-9G>T	rs367724979	0.00008
NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)	rs375760367	0.00008
NM_001379110.1(SLC9A6):c.-4A>G	rs782090744	0.00004
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)	rs782296172	0.00004
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)	rs886044780	0.00004
NM_001379110.1(SLC9A6):c.-16C>T	rs139299794	0.00003
NM_001379110.1(SLC9A6):c.-56-25C>G	rs782396686	0.00002
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)	rs781918578	0.00002
NM_001379110.1(SLC9A6):c.516C>T (p.Phe172=)	rs1423014570	0.00002
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)	rs782177396	0.00001
NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)	rs782708610	0.00001
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)	rs796053275	0.00001
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)	rs782117973	0.00001
NM_001379110.1(SLC9A6):c.638-5A>G	rs1057520615	0.00001
NM_001379110.1(SLC9A6):c.5_8delinsTT	rs797044655
NM_001379110.1(SLC9A6):c.-20G>A	rs782736274
NM_001379110.1(SLC9A6):c.1768-6A>G	rs1556623179
NM_001379110.1(SLC9A6):c.370-9_370-5del	rs796053290
NM_001379110.1(SLC9A6):c.448-1G>A	rs797044508
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)	rs796053281
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)	rs398124224

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