ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Natera, Inc.

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816
NM_001369.2(DNAH5):c.3905del (p.Leu1302fs) rs754698253
NM_001369.2(DNAH5):c.5114+1G>C rs878854457
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094
NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.5710-2A>G rs548521732
NM_001369.2(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154
NM_001369.2(DNAH5):c.8167C>T (p.Gln2723Ter) rs1309660408
NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274
NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231
NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713
NM_001369.3(DNAH5):c.8029C>T rs775946081

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