List of variants in gene combination EDAR, RANBP2 reported as benign for ectodermal dysplasia syndrome

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.655+30T>C	rs260630	0.90817
NM_022336.4(EDAR):c.750C>T (p.Ser250=)	rs260632	0.90287
NM_022336.4(EDAR):c.*42G>T	rs7607563	0.86887
NM_022336.4(EDAR):c.*1129A>G	rs13001699	0.74105
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	rs12623957	0.72397
NM_022336.4(EDAR):c.1024+44C>T	rs260639	0.71201
NM_022336.4(EDAR):c.*1598T>C	rs10865025	0.70934
NM_022336.4(EDAR):c.*2426C>T	rs1478517	0.52218
NM_022336.4(EDAR):c.*935C>T	rs3749096	0.14095
NM_022336.4(EDAR):c.*757T>C	rs3749097	0.08815
NM_022336.4(EDAR):c.357-4G>A	rs748225	0.07354
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	rs3827760	0.05968
NM_022336.4(EDAR):c.*1248G>T	rs75155869	0.05209
NM_022336.4(EDAR):c.*1900C>T	rs200762071	0.03161
NM_022336.4(EDAR):c.*1133C>T	rs114097029	0.03003
NM_022336.4(EDAR):c.*895C>T	rs115259025	0.02162
NM_022336.4(EDAR):c.*999C>T	rs10206737	0.02037
NM_022336.4(EDAR):c.*328G>A	rs75703116	0.01927
NM_022336.4(EDAR):c.*1107C>T	rs73952545	0.01003
NM_022336.4(EDAR):c.736G>A (p.Val246Met)	rs79798733	0.00877
NM_022336.4(EDAR):c.57T>A (p.Ser19=)	rs28407350	0.00782
NM_022336.4(EDAR):c.870C>T (p.Pro290=)	rs3749099	0.00493
NM_022336.4(EDAR):c.1179C>T (p.Asp393=)	rs115930248	0.00401
NM_022336.4(EDAR):c.*254C>T	rs148961371	0.00400
NM_022336.4(EDAR):c.813T>C (p.Asp271=)	rs3749098	0.00390
NM_022336.4(EDAR):c.723G>A (p.Glu241=)	rs3749108	0.00388
NM_022336.4(EDAR):c.*2078T>C	rs115501541	0.00324
NM_022336.4(EDAR):c.319A>G (p.Met107Val)	rs61761321	0.00302
NM_022336.4(EDAR):c.43G>A (p.Val15Ile)	rs151195196	0.00254
NM_022336.4(EDAR):c.1143C>T (p.Phe381=)	rs143639120	0.00126
NM_022336.4(EDAR):c.849C>T (p.Ser283=)	rs145796324	0.00093
NM_022336.4(EDAR):c.*1774G>A	rs189855301	0.00091
NM_022336.4(EDAR):c.-189T>C	rs569682476	0.00078
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)	rs146567337	0.00054
NM_022336.4(EDAR):c.243A>G (p.Lys81=)	rs145518416	0.00043
NM_022336.4(EDAR):c.147G>A (p.Pro49=)	rs149582563	0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=)	rs10432616	0.00039
NM_022336.4(EDAR):c.1305G>A (p.Ala435=)	rs564195922	0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=)	rs147059377	0.00019
NM_022336.4(EDAR):c.-18-14C>T	rs532111960	0.00004
NM_022336.4(EDAR):c.*1678C>T	rs565595816	0.00002
NM_022336.4(EDAR):c.*2141T>C	rs566201941
NM_022336.4(EDAR):c.1024+16del	rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.442+14T>C
NM_022336.4(EDAR):c.822C>A (p.Ser274=)	rs79648056

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