ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NC_000005.10:g.(?_13768960)_(13794058_?)del
NC_000005.10:g.(?_13876664)_(13914662_?)del
NC_000005.10:g.13721172C>T
NC_000005.10:g.13776438C>G
NC_000005.10:g.13780912_13781882del
NC_000005.10:g.13794060T>C
NC_000005.10:g.13824335T>C
NC_000005.10:g.13829509C>T
NC_000005.10:g.13886130C>T
NC_000005.10:g.13894823T>C
NC_000005.10:g.13928179C>T
NC_000005.10:g.13931245C>T
NC_000005.9:g.(?_13729538)_(13771099_?)dup
NC_000005.9:g.(?_13753332)_(13754457_?)del
NC_000005.9:g.(?_13781021_13781991del
NC_000005.9:g.(?_13792093)_(13794177_?)del
NC_000005.9:g.(?_13886063)_(13911612_?)dup
NC_000005.9:g.(?_13917246)_(13919467_?)del
NC_000005.9:g.(?_13922436_13923774del
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
NM_001369.2(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del)
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001369.2(DNAH5):c.11211+1G>A rs1554033855
NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456
NM_001369.2(DNAH5):c.12499+1G>A rs1579894454
NM_001369.2(DNAH5):c.12499+2T>G rs1484826593
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.2(DNAH5):c.193-2A>G rs769267893
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.2260-1G>A rs1561524235
NM_001369.2(DNAH5):c.2744-1G>T
NM_001369.2(DNAH5):c.3660del (p.Cys1221fs) rs1561476089
NM_001369.2(DNAH5):c.4053+1G>T rs1060501466
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.439-2A>G rs565076112
NM_001369.2(DNAH5):c.4530del (p.Asn1511fs) rs1554082275
NM_001369.2(DNAH5):c.4643T>C (p.Leu1548Pro)
NM_001369.2(DNAH5):c.4796+1G>A rs989235687
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.2(DNAH5):c.5883-2A>G rs1580465796
NM_001369.2(DNAH5):c.5992G>A (p.Gly1998Arg) rs1298790222
NM_001369.2(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228
NM_001369.2(DNAH5):c.6427G>T (p.Glu2143Ter) rs1064795496
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001369.2(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.2(DNAH5):c.799-269_1072del
NM_001369.2(DNAH5):c.8010+3A>G rs748171209
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974
NM_001369.2(DNAH5):c.8396G>A (p.Arg2799Gln)
NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811
NM_001369.2(DNAH5):c.8449G>T (p.Asp2817Tyr) rs745885469
NM_001369.2(DNAH5):c.8497C>T (p.Arg2833Cys)
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8821-1G>C rs1060501454
NM_001369.2(DNAH5):c.9105+2T>C rs1580179985
NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.2(DNAH5):c.9374-2A>T rs1561215953
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) rs1305797678
NM_001369.2(DNAH5):c.9986T>C (p.Leu3329Pro) rs878854459
NM_001369.3(DNAH5):c.11028+1G>C
NM_001369.3(DNAH5):c.11028+2T>C
NM_001369.3(DNAH5):c.11570+2T>C
NM_001369.3(DNAH5):c.11761+2T>A
NM_001369.3(DNAH5):c.12909+2T>C
NM_001369.3(DNAH5):c.1321-2A>G
NM_001369.3(DNAH5):c.13338+1G>C
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
NM_001369.3(DNAH5):c.3835-2del
NM_001369.3(DNAH5):c.4054-1G>A
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs)
NM_001369.3(DNAH5):c.6250-2A>G
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)
NM_001369.3(DNAH5):c.6841+1G>C
NM_001369.3(DNAH5):c.9897+1G>A
Single allele

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