List of variants reported as benign for Lethal acantholytic epidermolysis bullosa

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.1141-44C>T	rs2076296	0.77690
NM_004415.4(DSP):c.3084+28G>A	rs2842691	0.77273
NM_004415.4(DSP):c.2091A>G (p.Gly697=)	rs2076304	0.76849
NM_004415.4(DSP):c.3084+24T>G	rs2806229	0.74918
NM_004415.4(DSP):c.2631G>A (p.Arg877=)	rs1016835	0.74603
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	rs2744380	0.68624
NM_004415.4(DSP):c.1904-49T>A	rs2076303	0.41041
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)	rs2076300	0.28306
NM_004415.4(DSP):c.2862C>T (p.Cys954=)	rs2064217	0.27166
NM_004415.4(DSP):c.*197C>T	rs12250	0.26572
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)	rs6929069	0.19612
NM_004415.4(DSP):c.1dup (p.Met1fs)	rs17133512	0.17362
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)	rs2076299	0.13777
NM_004415.4(DSP):c.126T>C (p.Tyr42=)	rs36087964	0.06956
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)	rs28763966	0.04717
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)	rs11558731	0.04375
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	rs17604693	0.02655
NM_004415.4(DSP):c.1903+7T>C	rs28763962	0.02605
NM_004415.4(DSP):c.273+10C>T	rs56148603	0.02451
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)	rs28763968	0.01341
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)	rs61731476	0.01161
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)	rs28763969	0.00940
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)	rs28763967	0.00925
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	rs28763961	0.00618
NM_004415.4(DSP):c.105G>A (p.Gly35=)	rs77445784	0.00587
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)	rs113902911	0.00572
NM_004415.4(DSP):c.8481C>T (p.Ser2827=)	rs151029175	0.00494
NM_004415.4(DSP):c.*39T>C	rs145079869	0.00128
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)	rs138329459	0.00103
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)	rs28763971	0.00077
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	rs116888866	0.00026
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)	rs181378432	0.00011
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)	rs368802003

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