ClinVar Miner

List of variants in gene DNAH1 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter) rs199910432 0.00019
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs) rs762545991 0.00004
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) rs759727960 0.00004
NM_015512.5(DNAH1):c.12143del (p.Ala4048fs) rs746049858 0.00003
NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter) rs766323732 0.00003
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015512.5(DNAH1):c.12339G>A (p.Trp4113Ter) rs767196276 0.00001
NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs) rs1297408310 0.00001
NM_015512.5(DNAH1):c.2602C>T (p.Arg868Ter) rs778209826 0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter) rs1415820936 0.00001
NM_015512.5(DNAH1):c.4167C>A (p.Tyr1389Ter) rs752041071 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015512.5(DNAH1):c.9352C>T (p.Arg3118Ter) rs371940272 0.00001
NM_015512.5(DNAH1):c.10002del (p.Glu3336fs) rs1704386838
NM_015512.5(DNAH1):c.10096C>T (p.Arg3366Ter)
NM_015512.5(DNAH1):c.10468_10471del (p.Arg3490fs) rs759646845
NM_015512.5(DNAH1):c.10979del (p.Leu3660fs)
NM_015512.5(DNAH1):c.11382_11383delinsAT (p.Lys3795Ter)
NM_015512.5(DNAH1):c.11473del (p.His3825fs)
NM_015512.5(DNAH1):c.12029_12030insGT (p.Lys4011fs)
NM_015512.5(DNAH1):c.12070dup (p.Leu4024fs)
NM_015512.5(DNAH1):c.171del (p.Lys58fs)
NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs) rs557979163
NM_015512.5(DNAH1):c.2005_2014del (p.Gly669fs) rs2153223851
NM_015512.5(DNAH1):c.202_203del (p.Pro68fs)
NM_015512.5(DNAH1):c.2610G>A (p.Trp870Ter)
NM_015512.5(DNAH1):c.2921_2939dup (p.Arg981fs) rs2153224037
NM_015512.5(DNAH1):c.2926del (p.Ala976fs)
NM_015512.5(DNAH1):c.3107G>A (p.Trp1036Ter) rs1247282335
NM_015512.5(DNAH1):c.3183dup (p.Lys1062fs)
NM_015512.5(DNAH1):c.352C>T (p.Arg118Ter)
NM_015512.5(DNAH1):c.3583C>T (p.Gln1195Ter)
NM_015512.5(DNAH1):c.391A>T (p.Lys131Ter)
NM_015512.5(DNAH1):c.4284G>A (p.Trp1428Ter)
NM_015512.5(DNAH1):c.436del (p.Gln146fs) rs1701330284
NM_015512.5(DNAH1):c.4757del (p.Gly1586fs)
NM_015512.5(DNAH1):c.5206_5207del (p.Thr1736fs)
NM_015512.5(DNAH1):c.526C>T (p.Gln176Ter)
NM_015512.5(DNAH1):c.5282_5283del (p.Val1761fs)
NM_015512.5(DNAH1):c.5308C>T (p.Arg1770Ter)
NM_015512.5(DNAH1):c.5547C>A (p.Tyr1849Ter)
NM_015512.5(DNAH1):c.5736C>G (p.Tyr1912Ter)
NM_015512.5(DNAH1):c.7155G>A (p.Trp2385Ter)
NM_015512.5(DNAH1):c.7342del (p.Gln2448fs)
NM_015512.5(DNAH1):c.7402_7403del (p.Trp2468fs)
NM_015512.5(DNAH1):c.7435C>T (p.Arg2479Ter)
NM_015512.5(DNAH1):c.7559C>G (p.Ser2520Ter)
NM_015512.5(DNAH1):c.8170C>T (p.Arg2724Ter)
NM_015512.5(DNAH1):c.8412dup (p.Lys2805fs)
NM_015512.5(DNAH1):c.8587del (p.Ala2863fs)
NM_015512.5(DNAH1):c.8626-1G>C
NM_015512.5(DNAH1):c.9340C>T (p.Gln3114Ter) rs1704217868

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