ClinVar Miner

Variants in gene DNAH5 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 73
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.13126-39G>A rs78940762 0.01324
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001369.3(DNAH5):c.5272-32T>C rs368185722 0.01210
NM_001369.3(DNAH5):c.13338+16C>T rs115271897 0.01021
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001369.3(DNAH5):c.6579+20G>A rs115382993 0.00928
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00249
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001369.3(DNAH5):c.5882+6G>A rs377640010 0.00158
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln) rs116069486 0.00153
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=) rs112102932 0.00132
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=) rs149045168 0.00128
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr) rs150814892 0.00127
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=) rs150994380 0.00124
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=) rs145381989 0.00118
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=) rs141621142 0.00076
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001369.3(DNAH5):c.2578-10T>G rs756212532 0.00065
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00021
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299 0.00003
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.88C>A (p.Arg30=) rs114220185

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