ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222

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