List of variants studied for hereditary epidermal appendage anomaly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	rs132630309	0.00312
NM_004278.4(PIGL):c.263G>A (p.Arg88His)	rs755380500	0.00004
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)	rs776830520	0.00003
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	rs761385178	0.00002
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)	rs778910338	0.00002
NM_207118.3(GTF2H5):c.36-2A>G	rs765378190	0.00001
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	rs121913047
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)	rs769146546
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	rs200665173
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs)	rs1597422298
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)	rs1555812473
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr)	rs775268226
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)	rs587777534
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro)	rs1592141626
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)	rs1554596418
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)	rs1553448320
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu)	rs1211419981

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