List of variants in gene SLC9A1 studied for Lichtenstein-Knorr syndrome

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=)	rs4418629	0.97243
NM_003047.5(SLC9A1):c.*2A>G	rs4266911	0.97068
NM_003047.5(SLC9A1):c.69T>C (p.Val23=)	rs34306208	0.31344
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=)	rs139314838	0.00095
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met)	rs764274123	0.00002
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)	rs1221107969
NM_003047.5(SLC9A1):c.1273C>T (p.Arg425Cys)
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=)	rs2083146343
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
NM_003047.5(SLC9A1):c.862del (p.Ile288fs)	rs2083214834
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg)	rs786204831

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