ClinVar Miner

List of variants in gene DNAH1 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 gnomAD frequency
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00104
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val) rs200158571 0.00076
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys) rs199740667 0.00056
NM_015512.5(DNAH1):c.7646A>G (p.Asn2549Ser) rs199694029 0.00041
NM_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln) rs77451372 0.00035
NM_015512.5(DNAH1):c.10976A>G (p.Asn3659Ser) rs376694884 0.00006
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His) rs373906923 0.00006
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_015512.5(DNAH1):c.77T>C (p.Val26Ala) rs772550201 0.00003
NM_015512.5(DNAH1):c.1469A>G (p.His490Arg) rs1449951214 0.00002
NM_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu) rs369548008 0.00001
NM_015512.5(DNAH1):c.11376C>A (p.Asn3792Lys) rs768178830 0.00001
NM_015512.5(DNAH1):c.12426C>G (p.Ile4142Met) rs1374164718 0.00001
NM_015512.5(DNAH1):c.409G>A (p.Gly137Arg) rs770952001 0.00001
NM_015512.5(DNAH1):c.4702A>G (p.Thr1568Ala) rs753046775 0.00001
NM_015512.5(DNAH1):c.8713A>G (p.Ile2905Val) rs199519687 0.00001
NM_015512.5(DNAH1):c.10317C>G (p.Ile3439Met)
NM_015512.5(DNAH1):c.10394A>G (p.Asn3465Ser) rs375477856
NM_015512.5(DNAH1):c.10919T>C (p.Met3640Thr) rs1578204270
NM_015512.5(DNAH1):c.11539G>C (p.Asp3847His) rs763059648
NM_015512.5(DNAH1):c.2929A>T (p.Asn977Tyr) rs1702436070
NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn) rs1702487234
NM_015512.5(DNAH1):c.5445_5457delinsT (p.Glu1815_Tyr1819delinsAsp) rs1703011374
NM_015512.5(DNAH1):c.8677A>G (p.Ile2893Val) rs1704102151

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