ClinVar Miner

List of variants in gene DNAH7 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018897.3(DNAH7):c.9956T>C (p.Leu3319Pro) rs13411834 0.96325
NM_018897.3(DNAH7):c.398+9T>C rs4850381 0.72994
NM_018897.3(DNAH7):c.1152G>A (p.Thr384=) rs6434811 0.70848
NM_018897.3(DNAH7):c.1633C>T (p.Arg545Cys) rs10931715 0.52883
NM_018897.3(DNAH7):c.3486A>C (p.Ala1162=) rs1489802 0.48854
NM_018897.3(DNAH7):c.3059T>C (p.Ile1020Thr) rs62623378 0.08141
NM_018897.3(DNAH7):c.5560A>G (p.Ile1854Val) rs62623593 0.06309
NM_018897.3(DNAH7):c.2619C>G (p.Val873=) rs115124743 0.03062
NM_018897.3(DNAH7):c.6340A>G (p.Thr2114Ala) rs75859635 0.02917
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys) rs62623377 0.01654
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg) rs144390858 0.00904
NM_018897.3(DNAH7):c.4549-3del rs61502519
NM_018897.3(DNAH7):c.4897-8del rs11292337

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