ClinVar Miner

List of variants in gene DNAH8 reported as likely pathogenic

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.9194+1G>A rs144711161 0.00013
NM_001206927.2(DNAH8):c.6131+1G>A rs145974361 0.00008
NM_001206927.2(DNAH8):c.12007+1G>T rs372080325 0.00007
NM_001206927.2(DNAH8):c.11563+1G>T rs776791493 0.00004
NM_001206927.2(DNAH8):c.10963-1G>A rs376903331 0.00003
NM_001206927.2(DNAH8):c.2664+2T>C rs753831132 0.00003
NM_001206927.2(DNAH8):c.2139+1G>A rs376576474 0.00002
NM_001206927.2(DNAH8):c.5734-1G>T rs781634544 0.00002
NM_001206927.2(DNAH8):c.3333+1G>A rs756616538 0.00001
NM_001206927.2(DNAH8):c.763-1G>A rs1582865345 0.00001
NM_001206927.2(DNAH8):c.10309-1G>A
NM_001206927.2(DNAH8):c.10663-2A>G
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)
NM_001206927.2(DNAH8):c.12249-2A>T
NM_001206927.2(DNAH8):c.13214+1G>A
NM_001206927.2(DNAH8):c.1516-2A>C rs200115379
NM_001206927.2(DNAH8):c.2267dup (p.Asp757fs)
NM_001206927.2(DNAH8):c.2901+1G>A
NM_001206927.2(DNAH8):c.3150+1G>A
NM_001206927.2(DNAH8):c.4188+2T>A
NM_001206927.2(DNAH8):c.4736G>A (p.Trp1579Ter)
NM_001206927.2(DNAH8):c.8259+1G>A
NM_001206927.2(DNAH8):c.9349-1G>T rs1554132747

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