ClinVar Miner

List of variants in gene EDARADD studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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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.*682G>A rs61740486 0.02320
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.*678A>C rs61740488 0.01970
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.*1438C>T rs201710490 0.00217
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.*1072C>T rs988277282 0.00039
NM_145861.4(EDARADD):c.*757A>C rs201197563 0.00036
NM_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
NM_145861.4(EDARADD):c.*272G>A rs760609411 0.00032
NM_145861.4(EDARADD):c.*195G>T rs775159272 0.00028
NM_145861.4(EDARADD):c.*765G>A rs573814452 0.00023
NM_145861.4(EDARADD):c.*1250C>T rs1018635371 0.00021
NM_145861.4(EDARADD):c.*2052C>T rs759188384 0.00017
NM_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
NM_145861.4(EDARADD):c.*1508C>T rs886046196 0.00011
NM_145861.4(EDARADD):c.*863C>T rs570062425 0.00008
NM_145861.4(EDARADD):c.*1004G>A rs750918090 0.00006
NM_145861.4(EDARADD):c.*100C>T rs886046187 0.00006
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_145861.4(EDARADD):c.*1149G>A rs886046194 0.00004
NM_145861.4(EDARADD):c.*1303T>G rs780044781 0.00004
NM_145861.4(EDARADD):c.*1738A>G rs878897423 0.00004
NM_145861.4(EDARADD):c.*2008G>A rs184215335 0.00003
NM_145861.4(EDARADD):c.600C>T (p.Asp200=) rs74942492 0.00003
NM_145861.4(EDARADD):c.*1985A>G rs774501424 0.00002
NM_145861.4(EDARADD):c.*921G>A rs886046192 0.00002
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 0.00002
NM_145861.4(EDARADD):c.*12T>C rs568663942 0.00001
NM_145861.4(EDARADD):c.*1535C>T rs202115969 0.00001
NM_145861.4(EDARADD):c.*1809C>T rs878900513 0.00001
NM_145861.4(EDARADD):c.*1871C>T rs886046197 0.00001
NM_145861.4(EDARADD):c.*719C>T rs188977509 0.00001
NM_145861.4(EDARADD):c.*920C>T rs1242190032 0.00001
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp) rs759461234 0.00001
NM_145861.4(EDARADD):c.121-6C>G rs1476912628 0.00001
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000001.11:g.236468231_236468234del
NM_145861.4(EDARADD):c.*1012A>G rs572366811
NM_145861.4(EDARADD):c.*115A>G rs886046188
NM_145861.4(EDARADD):c.*1262C>T rs956560100
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_145861.4(EDARADD):c.*1723G>A rs940030231
NM_145861.4(EDARADD):c.*1788G>A rs1053380939
NM_145861.4(EDARADD):c.*1962C>T rs111987152
NM_145861.4(EDARADD):c.*2018C>G rs886046198
NM_145861.4(EDARADD):c.*354G>C rs886046190
NM_145861.4(EDARADD):c.*558C>T rs1309549108
NM_145861.4(EDARADD):c.*586T>C rs886046191
NM_145861.4(EDARADD):c.*746G>T rs745456566
NM_145861.4(EDARADD):c.*956C>T rs201986008
NM_145861.4(EDARADD):c.*971C>T rs886046193
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.147G>A (p.Thr49=)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.161-17_161-15del
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_145861.4(EDARADD):c.220-15C>T rs886046185
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) rs886046186
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.570C>T (p.Asp190=)
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) rs375789023
NM_145861.4(EDARADD):c.62-18T>C
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576

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