ClinVar Miner

List of variants in gene DNAH5 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.*1389C>T rs77701143 0.01404
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001369.3(DNAH5):c.*1502C>T rs144265705 0.00842
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001369.3(DNAH5):c.*1156C>T rs115907706 0.00534
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001369.3(DNAH5):c.13125+10T>A rs2277047 0.00039
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001369.3(DNAH5):c.3835-3del rs35398031

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