ClinVar Miner

List of variants in gene DNAH5 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_001369.2(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806
NM_001369.2(DNAH5):c.11456-3C>T rs368946226
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399
NM_001369.2(DNAH5):c.1251C>T (p.Thr417=) rs112911055
NM_001369.2(DNAH5):c.12655G>A (p.Ala4219Thr) rs794727887
NM_001369.2(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967
NM_001369.2(DNAH5):c.13753C>A (p.Pro4585Thr)
NM_001369.2(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.2(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2306C>T (p.Ala769Val)
NM_001369.2(DNAH5):c.2355C>T (p.Leu785=) rs112238091
NM_001369.2(DNAH5):c.271G>T (p.Glu91Ter)
NM_001369.2(DNAH5):c.297A>T (p.Gly99=) rs794727633
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3363T>G (p.Ser1121=) rs58266192
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.4797-1G>C rs1561449604
NM_001369.2(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991
NM_001369.2(DNAH5):c.5396C>T (p.Ser1799Leu) rs727503903
NM_001369.2(DNAH5):c.5883-6A>G rs763588282
NM_001369.2(DNAH5):c.5931C>T (p.Ala1977=) rs886043125
NM_001369.2(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250
NM_001369.2(DNAH5):c.7444C>T (p.Arg2482Trp) rs1355327016
NM_001369.2(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169
NM_001369.2(DNAH5):c.7609+19C>T rs35732567
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.7888-6dupT rs745582136
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly)
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001369.2(DNAH5):c.9721-12A>T rs12655133
NM_001369.2(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.2(DNAH5):c.9898-6C>T rs1554039568

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