ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic for Primary ciliary dyskinesia

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Gene type:
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Total variants: 72
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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.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006
NM_001369.2(DNAH5):c.11211+1G>A rs1554033855
NM_001369.2(DNAH5):c.12499+1G>A rs1579894454
NM_001369.2(DNAH5):c.12499+2T>G rs1484826593
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.193-2A>G rs769267893
NM_001369.2(DNAH5):c.2260-1G>A rs1561524235
NM_001369.2(DNAH5):c.2744-1G>T
NM_001369.2(DNAH5):c.4053+1G>T rs1060501466
NM_001369.2(DNAH5):c.439-2A>G rs565076112
NM_001369.2(DNAH5):c.4796+1G>A rs989235687
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.6249G>A (p.Met2083Ile) rs753614861
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.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974
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.9374-2A>T rs1561215953
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
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.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

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