List of variants in gene combination EDAR, RANBP2 reported as uncertain significance for 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: 52

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HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.-238C>T	rs529174103	0.00054
NM_022336.4(EDAR):c.*625C>A	rs781048595	0.00047
NM_022336.4(EDAR):c.*1108G>A	rs564052014	0.00042
NM_022336.4(EDAR):c.607G>A (p.Val203Ile)	rs148212997	0.00024
NM_022336.4(EDAR):c.*1798G>C	rs756408508	0.00016
NM_022336.4(EDAR):c.*188G>C	rs768401042	0.00013
NM_022336.4(EDAR):c.-256C>T	rs970357940	0.00012
NM_022336.4(EDAR):c.*499C>T	rs886054743	0.00011
NM_022336.4(EDAR):c.*2189G>T	rs547979348	0.00008
NM_022336.4(EDAR):c.*1710G>C	rs1042398708	0.00006
NM_022336.4(EDAR):c.*402G>A	rs758376546	0.00006
NM_022336.4(EDAR):c.*191C>T	rs780909525	0.00004
NM_022336.4(EDAR):c.*639T>G	rs750539909	0.00004
NM_022336.4(EDAR):c.-226T>C	rs886054748	0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser)	rs759735008	0.00004
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu)	rs376622302	0.00003
NM_022336.4(EDAR):c.*1435G>A	rs1193003358	0.00002
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)	rs770872155	0.00002
NM_022336.4(EDAR):c.*1298G>C	rs1696567664	0.00001
NM_022336.4(EDAR):c.*1703G>A	rs1459775112	0.00001
NM_022336.4(EDAR):c.*1761G>A	rs886054737	0.00001
NM_022336.4(EDAR):c.*242T>C	rs1398672274	0.00001
NM_022336.4(EDAR):c.*602T>A	rs886054742	0.00001
NM_022336.4(EDAR):c.-71C>G	rs1207037322	0.00001
NM_022336.4(EDAR):c.186C>T (p.Tyr62=)	rs751600128	0.00001
NM_022336.4(EDAR):c.560C>T (p.Ala187Val)	rs1411472080	0.00001
NM_022336.4(EDAR):c.606C>T (p.Ile202=)	rs201950451	0.00001
NM_022336.4(EDAR):c.*1181C>T	rs886054741
NM_022336.4(EDAR):c.*1199C>T	rs372575462
NM_022336.4(EDAR):c.*1226A>C	rs886054740
NM_022336.4(EDAR):c.*1319C>G	rs886054739
NM_022336.4(EDAR):c.*1535C>T	rs886054738
NM_022336.4(EDAR):c.*1563C>T	rs1696563393
NM_022336.4(EDAR):c.*1647C>T	rs1696561495
NM_022336.4(EDAR):c.*2016G>C	rs1436268689
NM_022336.4(EDAR):c.*2376T>C	rs1696543184
NM_022336.4(EDAR):c.*447T>C	rs1264182094
NM_022336.4(EDAR):c.*485C>T	rs970440390
NM_022336.4(EDAR):c.*486G>A	rs1386736657
NM_022336.4(EDAR):c.*546C>T	rs1696591208
NM_022336.4(EDAR):c.*714T>G	rs1348733331
NM_022336.4(EDAR):c.*791A>T	rs1696582725
NM_022336.4(EDAR):c.*867A>G	rs967989414
NM_022336.4(EDAR):c.*976A>G	rs142529386
NM_022336.4(EDAR):c.-129G>T	rs886054747
NM_022336.4(EDAR):c.-235G>A	rs886054749
NM_022336.4(EDAR):c.-30A>C	rs886054746
NM_022336.4(EDAR):c.-4G>A	rs886054745
NM_022336.4(EDAR):c.1029T>C (p.Leu343=)	rs1020417678
NM_022336.4(EDAR):c.1183A>G (p.Met395Val)	rs537348349
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)	rs886054744
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg)	rs145796324

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