ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579 0.00003
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter) rs767716511 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001369.3(DNAH5):c.10324C>T (p.Gln3442Ter) rs2126728109
NM_001369.3(DNAH5):c.12295del (p.Leu4099fs) rs1285287334
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13413G>A (p.Trp4471Ter) rs1742093744
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter) rs1742088018
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1731-1G>C
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.3(DNAH5):c.6688-1G>T rs1057520697
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333

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