ClinVar Miner

List of variants studied for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

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Total variants: 29
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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.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_145861.4(EDARADD):c.*682G>A rs61740486 0.02320
NM_145861.4(EDARADD):c.*678A>C rs61740488 0.01970
NM_145861.4(EDARADD):c.*1072C>T rs988277282 0.00039
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) rs121908454 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) rs121908455 0.00001
NC_000002.12:g.(?_108894471)_(108989220_?)del
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) rs773885029
NM_022336.4(EDAR):c.204del (p.Tyr69fs) rs1697322263
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) rs1558814135
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) rs1553448320
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg) rs1181378221
NM_022336.4(EDAR):c.51+1G>A rs797044435
NM_022336.4(EDAR):c.52-25_52-8del rs1558814967
NM_022336.4(EDAR):c.545del (p.Gly182fs)
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) rs749688157
NM_145861.4(EDARADD):c.*1962C>T rs111987152
NM_145861.4(EDARADD):c.*558C>T rs1309549108

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