ClinVar Miner

List of variants in gene DNAH5 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00249
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=) rs58266192 0.00179
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=) rs112238091 0.00114
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) rs112911055 0.00109
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116 0.00011
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391 0.00003
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929 0.00001
NM_001369.3(DNAH5):c.11456-3C>T rs368946226 0.00001
NM_001369.3(DNAH5):c.12655G>A (p.Ala4219Thr) rs794727887 0.00001
NM_001369.3(DNAH5):c.13753C>A (p.Pro4585Thr) rs760428177 0.00001
NM_001369.3(DNAH5):c.297A>T (p.Gly99=) rs794727633 0.00001
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158 0.00001
NM_001369.3(DNAH5):c.5883-6A>G rs763588282 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.3(DNAH5):c.5396C>T (p.Ser1799Leu) rs727503903
NM_001369.3(DNAH5):c.5931C>T (p.Ala1977=) rs886043125
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp) rs1355327016
NM_001369.3(DNAH5):c.7888-6dup rs745582136
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9898-6C>T rs1554039568

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