ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu) rs78346432 0.00003
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His) rs762555871 0.00003
NM_001369.3(DNAH5):c.439-2A>G rs565076112 0.00002
NM_001369.3(DNAH5):c.13338+1G>C rs1219958424 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.2744-1G>T rs1772232595 0.00001
NM_001369.3(DNAH5):c.2983+1G>A rs1772196982 0.00001
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr) rs1221785647 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7888-2A>G rs1230911299 0.00001
NC_000005.10:g.(?_13768960)_(13794058_?)del
NC_000005.10:g.(?_13876664)_(13914662_?)del
NC_000005.9:g.(?_13729538)_(13771099_?)dup
NC_000005.9:g.(?_13753332)_(13754457_?)del
NC_000005.9:g.(?_13769059)_(13794177_?)del
NC_000005.9:g.(?_13792093)_(13794177_?)del
NC_000005.9:g.(?_13841005)_(13841249_?)del
NC_000005.9:g.(?_13886063)_(13911612_?)dup
NC_000005.9:g.(?_13899162)_(13901374_?)del
NC_000005.9:g.(?_13917246)_(13919467_?)del
NC_000005.9:g.(?_13917269)_(13919732_?)del
NC_000005.9:g.(?_13922436)_13923774del
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)
NM_001369.3(DNAH5):c.10420-1G>A
NM_001369.3(DNAH5):c.10420-2A>G
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.3(DNAH5):c.10556-1G>A
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)
NM_001369.3(DNAH5):c.10872+1G>A rs2126700213
NM_001369.3(DNAH5):c.1090-2A>C
NM_001369.3(DNAH5):c.11028+1G>C rs2126694391
NM_001369.3(DNAH5):c.11028+2T>C rs773447251
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11211+1G>A rs1554033855
NM_001369.3(DNAH5):c.11211+2T>C
NM_001369.3(DNAH5):c.11455+1G>T
NM_001369.3(DNAH5):c.11570+2T>C rs2126610509
NM_001369.3(DNAH5):c.11761+2T>A rs2126606448
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg) rs2126606457
NM_001369.3(DNAH5):c.11884-1G>C
NM_001369.3(DNAH5):c.1198-1G>A
NM_001369.3(DNAH5):c.12033+1G>A rs2126563913
NM_001369.3(DNAH5):c.12279+1G>A
NM_001369.3(DNAH5):c.12280-1G>A
NM_001369.3(DNAH5):c.12499+1G>A rs1579894454
NM_001369.3(DNAH5):c.12499+2T>G rs1484826593
NM_001369.3(DNAH5):c.12500-2A>G
NM_001369.3(DNAH5):c.12705+1G>A
NM_001369.3(DNAH5):c.12705+1G>T
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.12909+2T>C rs2126503314
NM_001369.3(DNAH5):c.1321-2A>G rs2151981226
NM_001369.3(DNAH5):c.13338+1G>A
NM_001369.3(DNAH5):c.13491+1G>A
NM_001369.3(DNAH5):c.1645-2A>G
NM_001369.3(DNAH5):c.193-1G>A rs369193065
NM_001369.3(DNAH5):c.193-2A>G rs769267893
NM_001369.3(DNAH5):c.2052+2T>C
NM_001369.3(DNAH5):c.2259+1G>A
NM_001369.3(DNAH5):c.2260-1G>A rs1561524235
NM_001369.3(DNAH5):c.2260-2A>G rs1773706886
NM_001369.3(DNAH5):c.2431+1G>A
NM_001369.3(DNAH5):c.2431+1G>T
NM_001369.3(DNAH5):c.2432-1G>C
NM_001369.3(DNAH5):c.2577+1G>A
NM_001369.3(DNAH5):c.2577+1G>T
NM_001369.3(DNAH5):c.2577+2del
NM_001369.3(DNAH5):c.2578-1G>A rs1166599454
NM_001369.3(DNAH5):c.2744-2A>T
NM_001369.3(DNAH5):c.3175-1G>A
NM_001369.3(DNAH5):c.3262+1G>A rs757275351
NM_001369.3(DNAH5):c.3262+2T>G rs2151938077
NM_001369.3(DNAH5):c.3263-2A>G
NM_001369.3(DNAH5):c.3834+1G>A
NM_001369.3(DNAH5):c.3835-2del rs2151914274
NM_001369.3(DNAH5):c.4053+1G>A rs1060501466
NM_001369.3(DNAH5):c.4053+1G>T rs1060501466
NM_001369.3(DNAH5):c.4054-1G>A rs2151911687
NM_001369.3(DNAH5):c.4054-2A>G
NM_001369.3(DNAH5):c.4117-1G>A
NM_001369.3(DNAH5):c.4597-1G>T rs2151905981
NM_001369.3(DNAH5):c.4597-2A>T
NM_001369.3(DNAH5):c.4597-2del
NM_001369.3(DNAH5):c.4792_4796+10del
NM_001369.3(DNAH5):c.4796+1G>A rs989235687
NM_001369.3(DNAH5):c.5271+1G>T
NM_001369.3(DNAH5):c.5272-1G>A
NM_001369.3(DNAH5):c.5485-1G>T
NM_001369.3(DNAH5):c.5485-2A>T rs2151860622
NM_001369.3(DNAH5):c.54_57+5del
NM_001369.3(DNAH5):c.5710-6T>A
NM_001369.3(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.3(DNAH5):c.58-1G>A rs1778386695
NM_001369.3(DNAH5):c.6250-2A>G rs2151835519
NM_001369.3(DNAH5):c.6445-2A>G rs1309120344
NM_001369.3(DNAH5):c.6580-1G>T
NM_001369.3(DNAH5):c.6841+1G>A
NM_001369.3(DNAH5):c.6841+1G>C rs2151814082
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
NM_001369.3(DNAH5):c.7408-1G>A
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7610-1G>A
NM_001369.3(DNAH5):c.7888-1G>A rs767603357
NM_001369.3(DNAH5):c.798+1G>A
NM_001369.3(DNAH5):c.799-269_1072del
NM_001369.3(DNAH5):c.8010+2T>C
NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro)
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del) rs1757363484
NM_001369.3(DNAH5):c.8221_8224+9del
NM_001369.3(DNAH5):c.8225-1G>A
NM_001369.3(DNAH5):c.8225-2A>G rs2126901340
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His) rs2126899976
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr) rs745885469
NM_001369.3(DNAH5):c.8648-2A>T
NM_001369.3(DNAH5):c.8821-923_8868del rs1755013971
NM_001369.3(DNAH5):c.8951+1G>A
NM_001369.3(DNAH5):c.9105+2T>C rs1580179985
NM_001369.3(DNAH5):c.9106-1G>A
NM_001369.3(DNAH5):c.9373+1G>C rs1754098584
NM_001369.3(DNAH5):c.9373+1G>T
NM_001369.3(DNAH5):c.9606-1G>A
NM_001369.3(DNAH5):c.9606-2A>G rs755550738
NM_001369.3(DNAH5):c.9721-1G>C
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro) rs878854459

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