ClinVar Miner

List of variants in gene DNAH11 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 61
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HGVS dbSNP
NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys) rs772016314
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter) rs2285943
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val) rs2285944
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr) rs2214326
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly) rs928335497
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213
NM_001277115.2(DNAH11):c.11691-19delinsTG rs373641344
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001277115.2(DNAH11):c.11717C>G (p.Ala3906Gly) rs200664169
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=) rs187489343
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala) rs780042783
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser) rs12537531
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp) rs764968620
NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val) rs374359812
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=) rs4615458
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243
NM_001277115.2(DNAH11):c.2631C>A (p.Ile877=) rs1003575600
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=) rs149926178
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309
NM_001277115.2(DNAH11):c.4294T>G (p.Leu1432Val) rs794727390
NM_001277115.2(DNAH11):c.4377+15A>G rs57208694
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=) rs56029521
NM_001277115.2(DNAH11):c.4818-2A>G rs886044152
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His) rs750430725
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021
NM_001277115.2(DNAH11):c.5622-7C>A rs727503901
NM_001277115.2(DNAH11):c.571C>T (p.His191Tyr) rs562163349
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro) rs772070316
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287
NM_001277115.2(DNAH11):c.6546G>C (p.Lys2182Asn) rs886042733
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194
NM_001277115.2(DNAH11):c.7039A>G (p.Thr2347Ala) rs794727671
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=) rs10950854
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) rs12536928
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628
NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg) rs74667361
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp) rs147478795
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167
NM_001277115.2(DNAH11):c.9572C>T (p.Thr3191Ile) rs760597183
NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr) rs141979671
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter) rs753101269

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