ClinVar Miner

List of variants in gene DNAH14 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001367479.1(DNAH14):c.2482C>G (p.Leu828Val) rs3105559 0.80756
NM_001367479.1(DNAH14):c.3032G>A (p.Arg1011Gln) rs3128652 0.80597
NM_001367479.1(DNAH14):c.3330G>T (p.Met1110Ile) rs3128658 0.79258
NM_001367479.1(DNAH14):c.3029A>G (p.Lys1010Arg) rs3128651 0.79192
NM_001367479.1(DNAH14):c.1560C>T (p.Cys520=) rs2501107 0.79167
NM_001367479.1(DNAH14):c.12319-5C>T rs10915816 0.72981
NM_001367479.1(DNAH14):c.13037T>G (p.Phe4346Cys) rs950210 0.54738
NM_001367479.1(DNAH14):c.12651C>T (p.Gly4217=) rs3856155 0.50623
NM_001367479.1(DNAH14):c.10458C>A (p.Asp3486Glu) rs3856145 0.48359
NM_001367479.1(DNAH14):c.11288G>A (p.Arg3763Lys) rs7535953 0.48308
NM_001367479.1(DNAH14):c.10699A>G (p.Lys3567Glu) rs6667999 0.48276
NM_001367479.1(DNAH14):c.11159T>C (p.Val3720Ala) rs7527925 0.48276
NM_001367479.1(DNAH14):c.12186T>G (p.Asn4062Lys) rs12737248 0.45254
NM_001367479.1(DNAH14):c.12096C>T (p.Ala4032=) rs11578981 0.44980
NM_001367479.1(DNAH14):c.6749-15T>C rs630120 0.36548
NM_001367479.1(DNAH14):c.6866-10G>T rs670255 0.36269
NM_001367479.1(DNAH14):c.8469+9T>G rs12042900 0.30215
NM_001367479.1(DNAH14):c.10746T>A (p.Ile3582=) rs12742757 0.11302
NM_001367479.1(DNAH14):c.9250A>G (p.Asn3084Asp) rs10495237 0.11250
NM_001367479.1(DNAH14):c.5031C>G (p.Leu1677=) rs188496398 0.00273
NM_001367479.1(DNAH14):c.7830T>C (p.Asp2610=) rs560792252 0.00051
NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser) rs375791690 0.00016
NM_001367479.1(DNAH14):c.12593T>C (p.Leu4198Pro) rs3856154
NM_001367479.1(DNAH14):c.2792C>A (p.Ala931Asp) rs115366080
NM_001367479.1(DNAH14):c.3295A>T (p.Asn1099Tyr) rs3128655

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