List of variants in gene EDARADD reported as benign for autosomal recessive hypohidrotic ectodermal dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile)	rs966365	0.75593
NM_145861.4(EDARADD):c.62-41A>G	rs669710	0.53840
NM_145861.4(EDARADD):c.161-33G>C	rs636048	0.44828
NM_145861.4(EDARADD):c.*1562T>C	rs7513402	0.31448
NM_145861.4(EDARADD):c.369C>T (p.Asp123=)	rs604070	0.18581
NM_145861.4(EDARADD):c.*1787C>T	rs6428955	0.17627
NM_145861.4(EDARADD):c.*1593G>T	rs61736989	0.04569
NM_145861.4(EDARADD):c.-3G>A	rs79233817	0.04402
NM_145861.4(EDARADD):c.*1613T>C	rs61737025	0.04028
NM_145861.4(EDARADD):c.60G>A (p.Glu20=)	rs60808129	0.02304
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)	rs114632254	0.02153
NM_145861.4(EDARADD):c.121-19C>T	rs12064562	0.01338
NM_145861.4(EDARADD):c.*966A>G	rs61740489	0.00838
NM_145861.4(EDARADD):c.*1174A>G	rs61511776	0.00836
NM_145861.4(EDARADD):c.*1887G>A	rs114783553	0.00647
NM_145861.4(EDARADD):c.*285G>A	rs142266831	0.00512
NM_145861.4(EDARADD):c.*417G>A	rs189781826	0.00303
NM_145861.4(EDARADD):c.393G>A (p.Pro131=)	rs139996586	0.00254
NM_145861.4(EDARADD):c.120+7G>A	rs149429886	0.00125
NM_145861.4(EDARADD):c.161-13T>C	rs184596437	0.00110
NM_145861.4(EDARADD):c.*967A>G	rs193138062	0.00036
NM_145861.4(EDARADD):c.*1722C>T	rs559506851	0.00015
NM_145861.4(EDARADD):c.*1601C>A	rs3916983
NM_145861.4(EDARADD):c.*1601C>G	rs3916983
NM_145861.4(EDARADD):c.*956C>T	rs201986008
NM_145861.4(EDARADD):c.161-6del	rs555177993
NM_145861.4(EDARADD):c.161-6dup	rs555177993

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