List of variants reported as benign for Epidermolysis bullosa simplex

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)	rs641615	0.22738
NM_000424.4(KRT5):c.594C>A (p.Thr198=)	rs641621	0.22738
NM_000424.4(KRT5):c.555+9C>T	rs638907	0.18403
NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly)	rs11549950	0.17563
NM_000424.4(KRT5):c.556-15C>T	rs60314569	0.16492
NM_000424.4(KRT5):c.630T>C (p.Thr210=)	rs17852231	0.15363
NM_000424.4(KRT5):c.1065A>C (p.Thr355=)	rs4761924	0.15330
NM_000424.4(KRT5):c.*253C>T	rs6603	0.15324
NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)	rs11549949	0.15185
NM_000424.3(KRT5):c.-131A>G	rs12821071	0.13952
NM_000424.4(KRT5):c.351C>T (p.Leu117=)	rs11549951	0.07903
NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)	rs11170164	0.05271
NM_000424.4(KRT5):c.*185G>A	rs11549960	0.01969
NM_000424.4(KRT5):c.142A>C (p.Arg48=)	rs61747180	0.01877
NM_000424.4(KRT5):c.259T>G (p.Phe87Val)	rs61747188	0.01764
NM_000424.4(KRT5):c.156G>A (p.Ala52=)	rs74093478	0.01559
NM_000424.4(KRT5):c.631G>A (p.Val211Met)	rs147498164	0.01130
NM_000424.4(KRT5):c.-73T>C	rs3741725	0.00838
NM_000424.4(KRT5):c.30G>A (p.Arg10=)	rs61747182	0.00780
NM_000424.4(KRT5):c.1071C>T (p.Ala357=)	rs149467228	0.00503
NM_000424.4(KRT5):c.1555G>A (p.Gly519Ser)	rs140352947	0.00326
NM_000424.4(KRT5):c.1705G>A (p.Gly569Arg)	rs148276250	0.00253
NM_000424.4(KRT5):c.*263T>C	rs543314808	0.00140
NM_000424.4(KRT5):c.1236C>T (p.Asn412=)	rs144359915	0.00120
NM_000424.4(KRT5):c.1475-6C>T	rs142320369	0.00105
NM_000424.4(KRT5):c.39C>T (p.Gly13=)	rs116931869	0.00042
NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	rs61747181	0.00018
NM_000424.4(KRT5):c.57C>T (p.Thr19=)	rs529397720	0.00004
NM_000424.4(KRT5):c.1194C>T (p.Ala398=)	rs768794468	0.00003
NM_000424.4(KRT5):c.*323T>C	rs550268995	0.00001
NM_000424.4(KRT5):c.1554C>A (p.Gly518=)	rs144226740
NM_000424.4(KRT5):c.732G>A (p.Leu244=)	rs1132948

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