ClinVar Miner

List of variants studied for Cranioectodermal dysplasia

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_020779.4(WDR35):c.*2288C>T rs886055398 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_020779.4(WDR35):c.*2029GTCT[1] rs566446459
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) rs748998292
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) rs886055402
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.2375+2T>C rs786205567

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