ClinVar Miner

List of variants reported as benign for ectodermal dysplasia syndrome by Mendelics

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) rs2738787 0.94528
NC_000011.10:g.119639934A>C rs7940667 0.86377
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_014112.5(TRPS1):c.-9dup rs35329862 0.30691
NM_144991.3(TSPEAR):c.303+9076A>G rs452472 0.27108
NM_002448.3(MSX1):c.119C>G (p.Ala40Gly) rs36059701 0.14189
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_002448.3(MSX1):c.127A>C (p.Met43Leu) rs565664559 0.00007
NM_144991.3(TSPEAR):c.304-5751T>A
NM_144991.3(TSPEAR):c.304-5753G>T

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