ClinVar Miner

List of variants in gene combination DNAH5, LOC107457585 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg) rs36088710 0.00026
NM_001369.3(DNAH5):c.11215T>C (p.Leu3739=) rs768012285 0.00016
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) rs267600357 0.00010
NM_001369.3(DNAH5):c.11289C>T (p.Asn3763=) rs370292064 0.00007
NM_001369.3(DNAH5):c.11212-18A>C rs753193432 0.00002
NM_001369.3(DNAH5):c.11212-20A>G rs760815224 0.00001
NM_001369.3(DNAH5):c.11253T>C (p.Thr3751=) rs1486092540 0.00001
NM_001369.3(DNAH5):c.11280A>G (p.Leu3760=) rs772169912 0.00001
NM_001369.3(DNAH5):c.11286T>C (p.Asp3762=) rs753644166 0.00001
NM_001369.3(DNAH5):c.11298C>T (p.Tyr3766=) rs757118886 0.00001
NM_001369.3(DNAH5):c.11301C>T (p.Arg3767=) rs1482669571 0.00001
NM_001369.3(DNAH5):c.11316G>A (p.Gln3772=) rs763936826 0.00001
NM_001369.3(DNAH5):c.11323C>T (p.Leu3775=) rs1246573323 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) rs774415631 0.00001
NM_001369.3(DNAH5):c.11364A>G (p.Thr3788=) rs756347790 0.00001
NM_001369.3(DNAH5):c.11212-12G>T
NM_001369.3(DNAH5):c.11212-6T>C rs1391603456
NM_001369.3(DNAH5):c.11212-6T>G
NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=)
NM_001369.3(DNAH5):c.11229A>G (p.Arg3743=)
NM_001369.3(DNAH5):c.11239A>T (p.Met3747Leu)
NM_001369.3(DNAH5):c.11245G>T (p.Asp3749Tyr)
NM_001369.3(DNAH5):c.11246A>T (p.Asp3749Val) rs34447134
NM_001369.3(DNAH5):c.11247T>C (p.Asp3749=)
NM_001369.3(DNAH5):c.11256A>G (p.Ala3752=) rs1747688046
NM_001369.3(DNAH5):c.11259C>T (p.Asn3753=)
NM_001369.3(DNAH5):c.11268G>A (p.Arg3756=)
NM_001369.3(DNAH5):c.11271G>A (p.Met3757Ile)
NM_001369.3(DNAH5):c.11277A>G (p.Glu3759=) rs2126621365
NM_001369.3(DNAH5):c.11292G>A (p.Leu3764=) rs1435603022
NM_001369.3(DNAH5):c.11295T>C (p.Leu3765=)
NM_001369.3(DNAH5):c.11300G>T (p.Arg3767Leu)
NM_001369.3(DNAH5):c.11304G>A (p.Leu3768=)
NM_001369.3(DNAH5):c.11319G>T (p.Gly3773=) rs1002731861
NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly)
NM_001369.3(DNAH5):c.11334T>C (p.Asp3778=)
NM_001369.3(DNAH5):c.11349C>A (p.Val3783=) rs774415631
NM_001369.3(DNAH5):c.11350G>A (p.Val3784Met)
NM_001369.3(DNAH5):c.11358T>C (p.Ser3786=) rs2126620518

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