ClinVar Miner

List of variants in gene DNAH5 reported as likely benign for Ciliary dyskinesia, primary, 3

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Total variants: 47
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HGVS dbSNP
NM_001369.2(DNAH5):c.*1156C>T rs115907706
NM_001369.2(DNAH5):c.*1389C>T rs77701143
NM_001369.2(DNAH5):c.*1502C>T rs144265705
NM_001369.2(DNAH5):c.1090-8T>C rs16902950
NM_001369.2(DNAH5):c.11570+124G>C rs543104462
NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13125+10T>A rs2277047
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) rs140498500
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.2052+22C>A rs150480592
NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) rs199951976
NM_001369.2(DNAH5):c.2443T>A (p.Leu815Met) rs149654950
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3241A>G (p.Met1081Val) rs16902880
NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) rs61747516
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.3987A>G (p.Lys1329=) rs146191243
NM_001369.2(DNAH5):c.4053+13C>T rs543363871
NM_001369.2(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551
NM_001369.2(DNAH5):c.4807C>A (p.Pro1603Thr) rs369137751
NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) rs34671383
NM_001369.2(DNAH5):c.5115-4G>T rs141141086
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.6061+10A>G rs77957856
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001369.2(DNAH5):c.7465C>T (p.Leu2489=) rs771511314
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=) rs111995400
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9150C>T (p.Ser3050=) rs77477793
NM_001369.3(DNAH5):c.1537-102T>A
NM_001369.3(DNAH5):c.5271+72C>T
NM_001369.3(DNAH5):c.6989-18T>C

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