ClinVar Miner

List of variants in gene DNAH5 reported as uncertain significance for Ciliary dyskinesia, primary, 3

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Total variants: 35
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HGVS dbSNP
NM_001369.2(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493
NM_001369.2(DNAH5):c.11570+124G>C rs543104462
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233
NM_001369.2(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239
NM_001369.2(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.2(DNAH5):c.12523G>A (p.Val4175Met) rs148123430
NM_001369.2(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611
NM_001369.2(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427
NM_001369.2(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.382G>A (p.Val128Met)
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941
NM_001369.2(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986
NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) rs140700961
NM_001369.2(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.2(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709
NM_001369.2(DNAH5):c.5882+133A>G rs530043272
NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669
NM_001369.2(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849
NM_001369.2(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309
NM_001369.2(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.2(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.88C>T (p.Arg30Trp) rs114220185
NM_001369.2(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961
NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838

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