List of variants reported as benign for ectodermal dysplasia syndrome by Ambry Genetics

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_018648.4(NOP10):c.55-15G>C	rs422388	0.43627
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)	rs2287499	0.32078
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=)	rs2287498	0.13667
NM_198253.3(TERT):c.3039C>T (p.His1013=)	rs33954691	0.08834
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)	rs1127051	0.07549
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=)	rs34016213	0.04793
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)	rs17102313	0.03737
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser)	rs17880282	0.02475
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	rs61748181	0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=)	rs33956095	0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	rs35033501	0.01868
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	rs35719940	0.01370
NM_017838.4(NHP2):c.351C>T (p.Ala117=)	rs115334254	0.01019
NM_198253.3(TERT):c.1659C>T (p.Val553=)	rs35809415	0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=)	rs33963617	0.00739
NM_198253.3(TERT):c.2517G>A (p.Thr839=)	rs140124989	0.00178
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)	rs148329158	0.00162
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	rs140951453	0.00083
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	rs146700772	0.00028
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)	rs144756946	0.00024
NM_198253.3(TERT):c.2391C>G (p.Ser797=)	rs377216965	0.00020
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	rs199701877	0.00018
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly)	rs7640
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)	rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	rs782576893

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