ClinVar Miner

List of variants in gene DNAH1 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.9850G>A (p.Glu3284Lys) rs376653399 0.00003
NM_015512.5(DNAH1):c.5611-1G>A rs759219188 0.00002
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_015512.5(DNAH1):c.3980+1G>C rs1483000682 0.00001
NM_015512.5(DNAH1):c.5244+1G>A rs369746640 0.00001
NM_015512.5(DNAH1):c.10474+1G>A
NM_015512.5(DNAH1):c.10823+2T>C
NM_015512.5(DNAH1):c.10969-2A>C
NM_015512.5(DNAH1):c.11431-2A>G rs772998828
NM_015512.5(DNAH1):c.11644G>A (p.Gly3882Arg)
NM_015512.5(DNAH1):c.1286+1G>A
NM_015512.5(DNAH1):c.1656+1G>C
NM_015512.5(DNAH1):c.2728_2729+2del
NM_015512.5(DNAH1):c.3480+1G>C
NM_015512.5(DNAH1):c.4252_4266+9del
NM_015512.5(DNAH1):c.4572-2A>G
NM_015512.5(DNAH1):c.5332-2A>G
NM_015512.5(DNAH1):c.6666+1G>A
NM_015512.5(DNAH1):c.7198+1G>A
NM_015512.5(DNAH1):c.7805+1G>A
NM_015512.5(DNAH1):c.872-2A>G
NM_015512.5(DNAH1):c.9621+1G>T

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