ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Ambry Genetics

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5114+1G>C rs878854457 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter) rs758739748
NM_001369.3(DNAH5):c.11047_11050del (p.Lys3682_Glu3683insTer) rs1750178563
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs)
NM_001369.3(DNAH5):c.11840del (p.Val3947fs)
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs)
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs) rs768881056
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs)
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) rs1344601147
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs) rs2151905765
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs)
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs) rs2151835119
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs) rs2127015093
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs) rs1391084505
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs) rs1755969817
NM_001369.3(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter) rs764948792
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter)
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)

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