List of variants reported as benign for Netherton syndrome by Genome-Nilou Lab

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.2313+48G>A	rs9325074	0.79044
NM_006846.4(SPINK5):c.2667-13A>T	rs2052537	0.78792
NM_006846.4(SPINK5):c.82-31A>G	rs1423001	0.74778
NM_006846.4(SPINK5):c.1659C>T (p.Val553=)	rs2303071	0.58781
NM_006846.4(SPINK5):c.2241-26T>C	rs3764926	0.56233
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln)	rs3777134	0.54215
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=)	rs17704908	0.54197
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=)	rs33920397	0.54161
NM_006846.4(SPINK5):c.882+45_882+46insT	rs76839946	0.51324
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg)	rs6892205	0.50665
NM_006846.4(SPINK5):c.882+20A>G	rs11958432	0.45982
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val)	rs34482796	0.45563
NM_006846.4(SPINK5):c.1302+19G>A	rs2303068	0.44648
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)	rs2303067	0.44635
NM_006846.4(SPINK5):c.1093-26C>T	rs2303061	0.44621
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=)	rs6896303	0.44173
NM_006846.4(SPINK5):c.1188T>C (p.His396=)	rs2303065	0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn)	rs2303063	0.44127
NM_006846.4(SPINK5):c.*44T>C	rs4349706	0.43859
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn)	rs2303064	0.25071
NM_006846.4(SPINK5):c.1693-32C>T	rs2287769	0.14805
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp)	rs2303070	0.10250
NM_006846.4(SPINK5):c.1093-10A>G	rs2303062
NM_006846.4(SPINK5):c.1431-39del	rs34473560
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=)	rs880687
NM_006846.4(SPINK5):c.1821-47T>G	rs72660259
NM_006846.4(SPINK5):c.2313+31C>G	rs9325073

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