ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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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_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
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_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
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_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_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_022336.4(EDAR):c.*1900C>T rs200762071 0.03161
NM_022336.4(EDAR):c.*1133C>T rs114097029 0.03003
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_022336.4(EDAR):c.*895C>T rs115259025 0.02162
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_022336.4(EDAR):c.*999C>T rs10206737 0.02037
NM_022336.4(EDAR):c.*328G>A rs75703116 0.01927
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_022336.4(EDAR):c.*1107C>T rs73952545 0.01003
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_145861.4(EDARADD):c.*966A>G rs61740489 0.00838
NM_145861.4(EDARADD):c.*1174A>G rs61511776 0.00836
NM_022336.4(EDAR):c.57T>A (p.Ser19=) rs28407350 0.00782
NM_145861.4(EDARADD):c.*1887G>A rs114783553 0.00647
NM_145861.4(EDARADD):c.*285G>A rs142266831 0.00512
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_145861.4(EDARADD):c.*417G>A rs189781826 0.00303
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_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
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_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
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_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
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.822C>A (p.Ser274=) rs79648056
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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