ClinVar Miner

List of variants in gene DNAH5 reported by UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill

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Total variants: 24
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HGVS dbSNP
NC_000005.10:g.13721172C>T
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036
NM_001369.2(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585
NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231
NM_001369.2(DNAH5):c.8726G>A (p.Arg2909His) rs756069405
NM_001369.2(DNAH5):c.8982T>G (p.Asp2994Glu)
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser)
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp)
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs)
NM_001369.3(DNAH5):c.4373G>T (p.Arg1458Leu)
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs)
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)

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