List of variants reported as likely benign for Junctional epidermolysis bullosa, non-Herlitz type

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr)	rs17202961	0.05021
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)	rs149983875	0.00383
NM_000494.4(COL17A1):c.672C>T (p.Thr224=)	rs137868472	0.00275
NM_000494.4(COL17A1):c.2361G>C (p.Gln787His)	rs73329731	0.00266
NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val)	rs146841330	0.00265
NM_000494.4(COL17A1):c.4317C>G (p.Pro1439=)	rs143826232	0.00207
NM_000494.4(COL17A1):c.2128+8A>C	rs138724889	0.00193
NM_000494.4(COL17A1):c.2335+3A>G	rs114340599	0.00193
NM_000494.4(COL17A1):c.*8A>G	rs149754696	0.00158
NM_000494.4(COL17A1):c.2038+9G>T	rs368960793	0.00135
NM_000494.4(COL17A1):c.2764C>A (p.Pro922Thr)	rs148761230	0.00131
NM_000494.4(COL17A1):c.1375G>A (p.Gly459Ser)	rs151271674	0.00118
NM_000494.4(COL17A1):c.1590G>A (p.Ala530=)	rs150738577	0.00118
NM_000494.4(COL17A1):c.3766+14C>A	rs180732052	0.00083
NM_000494.4(COL17A1):c.2715C>T (p.Ser905=)	rs139467442	0.00056
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=)	rs202215313	0.00040
NM_000494.4(COL17A1):c.4033G>A (p.Gly1345Arg)	rs140068476	0.00032
NM_000494.4(COL17A1):c.4296T>C (p.Thr1432=)	rs571566750	0.00026
NM_000494.4(COL17A1):c.4120A>G (p.Asn1374Asp)	rs151151613	0.00014
NM_000494.4(COL17A1):c.2000A>G (p.Lys667Arg)	rs534396548	0.00013
NM_000494.4(COL17A1):c.93A>G (p.Pro31=)	rs141808001	0.00013
NM_000494.4(COL17A1):c.2586C>T (p.Pro862=)	rs759846848	0.00011
NM_000494.4(COL17A1):c.2822-13T>C	rs543310511	0.00001
NM_000494.4(COL17A1):c.1687+15G>T	rs77525709
NM_000494.4(COL17A1):c.324G>A (p.Ala108=)	rs61731085
NM_000494.4(COL17A1):c.990A>G (p.Thr330=)	rs142852551

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