ClinVar Miner

List of variants in gene DNAH5 studied for Inborn genetic diseases

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) rs199667661 0.00013
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00012
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His) rs140975593 0.00012
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00010
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys) rs141052175 0.00009
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) rs376453450 0.00005
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702 0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743 0.00004
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln) rs372291214 0.00004
NM_001369.3(DNAH5):c.8815G>A (p.Val2939Ile) rs566080915 0.00004
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00003
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr) rs779510008 0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser) rs945907926 0.00001
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser) rs910750925 0.00001
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr) rs144867885 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln) rs765104542 0.00001
NM_001369.3(DNAH5):c.10198T>C (p.Cys3400Arg)
NM_001369.3(DNAH5):c.10345G>A (p.Ala3449Thr)
NM_001369.3(DNAH5):c.10820A>G (p.Gln3607Arg)
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)
NM_001369.3(DNAH5):c.10946T>G (p.Ile3649Ser)
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
NM_001369.3(DNAH5):c.11546G>A (p.Gly3849Asp)
NM_001369.3(DNAH5):c.11744T>C (p.Phe3915Ser)
NM_001369.3(DNAH5):c.12041A>G (p.Lys4014Arg)
NM_001369.3(DNAH5):c.12230A>G (p.Gln4077Arg)
NM_001369.3(DNAH5):c.12251G>T (p.Arg4084Leu)
NM_001369.3(DNAH5):c.12275C>T (p.Ala4092Val)
NM_001369.3(DNAH5):c.12353A>G (p.Glu4118Gly)
NM_001369.3(DNAH5):c.12419T>C (p.Ile4140Thr)
NM_001369.3(DNAH5):c.12513C>G (p.Asp4171Glu)
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)
NM_001369.3(DNAH5):c.13055G>A (p.Arg4352Gln)
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
NM_001369.3(DNAH5):c.13301G>A (p.Cys4434Tyr)
NM_001369.3(DNAH5):c.13412G>T (p.Trp4471Leu)
NM_001369.3(DNAH5):c.13519G>C (p.Ala4507Pro)
NM_001369.3(DNAH5):c.13625G>A (p.Gly4542Asp)
NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)
NM_001369.3(DNAH5):c.1501A>G (p.Ile501Val)
NM_001369.3(DNAH5):c.1523C>A (p.Ala508Asp)
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
NM_001369.3(DNAH5):c.1642C>T (p.His548Tyr)
NM_001369.3(DNAH5):c.1643A>G (p.His548Arg)
NM_001369.3(DNAH5):c.1696A>G (p.Asn566Asp)
NM_001369.3(DNAH5):c.1756G>T (p.Asp586Tyr)
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
NM_001369.3(DNAH5):c.2581C>G (p.Leu861Val)
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
NM_001369.3(DNAH5):c.2821G>A (p.Val941Ile) rs370080157
NM_001369.3(DNAH5):c.2980C>G (p.Arg994Gly)
NM_001369.3(DNAH5):c.2998T>G (p.Ser1000Ala)
NM_001369.3(DNAH5):c.3038G>A (p.Ser1013Asn)
NM_001369.3(DNAH5):c.3039C>A (p.Ser1013Arg)
NM_001369.3(DNAH5):c.3263A>G (p.Asp1088Gly)
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)
NM_001369.3(DNAH5):c.3865C>T (p.Leu1289Phe)
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys) rs183833827
NM_001369.3(DNAH5):c.4178G>T (p.Gly1393Val)
NM_001369.3(DNAH5):c.446G>A (p.Ser149Asn)
NM_001369.3(DNAH5):c.4499C>G (p.Thr1500Ser)
NM_001369.3(DNAH5):c.4561G>A (p.Glu1521Lys)
NM_001369.3(DNAH5):c.4568C>T (p.Pro1523Leu)
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.5006C>T (p.Ala1669Val)
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg) rs758627759
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
NM_001369.3(DNAH5):c.5147G>A (p.Arg1716Gln)
NM_001369.3(DNAH5):c.5212A>C (p.Ile1738Leu)
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5669T>C (p.Ile1890Thr)
NM_001369.3(DNAH5):c.5720A>C (p.His1907Pro)
NM_001369.3(DNAH5):c.5824T>A (p.Tyr1942Asn)
NM_001369.3(DNAH5):c.5936C>T (p.Ala1979Val)
NM_001369.3(DNAH5):c.6794G>C (p.Gly2265Ala)
NM_001369.3(DNAH5):c.7207C>A (p.Leu2403Ile)
NM_001369.3(DNAH5):c.7219C>T (p.Pro2407Ser)
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
NM_001369.3(DNAH5):c.7289A>T (p.Glu2430Val)
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7391G>C (p.Gly2464Ala)
NM_001369.3(DNAH5):c.7684A>G (p.Ile2562Val)
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
NM_001369.3(DNAH5):c.7940C>T (p.Pro2647Leu)
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln) rs1424415934
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)
NM_001369.3(DNAH5):c.8141A>G (p.Asn2714Ser)
NM_001369.3(DNAH5):c.8168A>G (p.Gln2723Arg)
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)
NM_001369.3(DNAH5):c.8302C>A (p.Pro2768Thr)
NM_001369.3(DNAH5):c.8504C>T (p.Thr2835Ile)
NM_001369.3(DNAH5):c.8596G>A (p.Gly2866Arg)
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
NM_001369.3(DNAH5):c.8818A>C (p.Lys2940Gln)
NM_001369.3(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.3(DNAH5):c.8875G>A (p.Gly2959Arg)
NM_001369.3(DNAH5):c.896A>G (p.Tyr299Cys)
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
NM_001369.3(DNAH5):c.9157G>A (p.Ala3053Thr)
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)

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