ClinVar Miner

List of variants in gene combination EDAR, RANBP2 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
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.*1598T>C rs10865025 0.70934
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
NM_022336.3(EDAR):c.-370C>T rs3749110 0.26084
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.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.*1366A>G rs187951842 0.00322
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
NM_022336.4(EDAR):c.*1364T>G rs147757790 0.00105
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.-238C>T rs529174103 0.00054
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_022336.4(EDAR):c.*625C>A rs781048595 0.00047
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_022336.4(EDAR):c.*1108G>A rs564052014 0.00042
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_022336.3(EDAR):c.-348G>A rs886054750 0.00021
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_022336.4(EDAR):c.*1798G>C rs756408508 0.00016
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) rs760731007 0.00014
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.-226T>C rs886054748 0.00006
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_022336.4(EDAR):c.675G>A (p.Pro225=) rs746044070 0.00005
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.-18-14C>T rs532111960 0.00004
NM_022336.4(EDAR):c.156G>A (p.Pro52=) rs3749101 0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) rs759735008 0.00004
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 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.*1678C>T rs565595816 0.00002
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) rs770872155 0.00002
NM_022336.3(EDAR):c.-414A>G rs571395857 0.00001
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.108C>G (p.Tyr36Ter) rs758536902 0.00001
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) rs751600128 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 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_022336.3(EDAR):c.*2450G>A rs17037035
NM_022336.3(EDAR):c.-394T>C rs886054751
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.*1888GAGT[1] rs145115545
NM_022336.4(EDAR):c.*2016G>C rs1436268689
NM_022336.4(EDAR):c.*2141T>C rs566201941
NM_022336.4(EDAR):c.*2151_*2154dup rs111463955
NM_022336.4(EDAR):c.*2376T>C rs1696543184
NM_022336.4(EDAR):c.*2426_*2430del rs555061424
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.1017C>T (p.Val339=) rs201434694
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.146C>T (p.Pro49Leu) rs375891208
NM_022336.4(EDAR):c.656-1G>A rs1558802058
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.755A>G (p.Lys252Arg) rs1696904314
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) rs781652310
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) rs145796324

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