List of variants reported as likely pathogenic for autosomal dominant hypohidrotic ectodermal dysplasia by Invitae

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.175-2A>G	rs757233170	0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)	rs755654853	0.00001
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)	rs1696610650
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)	rs1696608635
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)	rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)	rs1696805635
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)	rs879255629

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