ClinVar Miner

List of variants in gene DNAH11 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His) rs756115857 0.00001
NM_001277115.2(DNAH11):c.10332+2T>C rs972753865 0.00001
NM_001277115.2(DNAH11):c.10691+5G>C rs1429978132 0.00001
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg) rs1355068287 0.00001
NM_001277115.2(DNAH11):c.4944+1G>A rs878854444 0.00001
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys) rs180897552 0.00001
NC_000007.13:g.(?_21609667)_(21631215_?)dup
NC_000007.13:g.(?_21779281)_(21779934_?)del
NM_001277115.2(DNAH11):c.10027-2A>G rs868294039
NM_001277115.2(DNAH11):c.10165+1G>A
NM_001277115.2(DNAH11):c.10166-1G>C
NM_001277115.2(DNAH11):c.10332+1G>A
NM_001277115.2(DNAH11):c.10569-2A>G
NM_001277115.2(DNAH11):c.10897-2A>T
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro) rs1060503064
NM_001277115.2(DNAH11):c.11690+1G>A
NM_001277115.2(DNAH11):c.1194+2T>C
NM_001277115.2(DNAH11):c.11967+5G>A rs878854436
NM_001277115.2(DNAH11):c.12195+1G>A
NM_001277115.2(DNAH11):c.1426-2A>G rs1064794014
NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)
NM_001277115.2(DNAH11):c.2170-1G>C
NM_001277115.2(DNAH11):c.2275-2A>G
NM_001277115.2(DNAH11):c.2667+1G>C
NM_001277115.2(DNAH11):c.3648+2T>C
NM_001277115.2(DNAH11):c.3766-8A>G rs1785297774
NM_001277115.2(DNAH11):c.3853-2A>G
NM_001277115.2(DNAH11):c.4012-1G>A
NM_001277115.2(DNAH11):c.4096-2A>G
NM_001277115.2(DNAH11):c.4254+1G>A rs2128453160
NM_001277115.2(DNAH11):c.4377+1G>A
NM_001277115.2(DNAH11):c.4378-1G>A
NM_001277115.2(DNAH11):c.4673_4725+36del
NM_001277115.2(DNAH11):c.4944+2T>C
NM_001277115.2(DNAH11):c.495+1G>T
NM_001277115.2(DNAH11):c.5094+1G>A rs746014324
NM_001277115.2(DNAH11):c.5094+2T>G
NM_001277115.2(DNAH11):c.5095-1G>A
NM_001277115.2(DNAH11):c.5328+3A>G rs1583570354
NM_001277115.2(DNAH11):c.5329-2A>G rs932177093
NM_001277115.2(DNAH11):c.5622-1G>A
NM_001277115.2(DNAH11):c.5639C>A (p.Thr1880Asn) rs1245853002
NM_001277115.2(DNAH11):c.5779-1G>C
NM_001277115.2(DNAH11):c.6042-1G>T
NM_001277115.2(DNAH11):c.6181-1G>A rs1360420006
NM_001277115.2(DNAH11):c.6274-1G>A
NM_001277115.2(DNAH11):c.6468+2T>G
NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly) rs1415270608
NM_001277115.2(DNAH11):c.6546+2T>C
NM_001277115.2(DNAH11):c.6763T>C (p.Trp2255Arg)
NM_001277115.2(DNAH11):c.6835-1G>A
NM_001277115.2(DNAH11):c.692+2T>C
NM_001277115.2(DNAH11):c.693-2A>G
NM_001277115.2(DNAH11):c.7440+2T>C
NM_001277115.2(DNAH11):c.7811+1G>C
NM_001277115.2(DNAH11):c.7812-2A>G
NM_001277115.2(DNAH11):c.7904_7914+645del rs1785786687
NM_001277115.2(DNAH11):c.7907_7914+646del rs1583647043
NM_001277115.2(DNAH11):c.7914+2T>C
NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln)
NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg) rs1060503056
NM_001277115.2(DNAH11):c.8673+1G>A rs1060503041
NM_001277115.2(DNAH11):c.8674-1G>A
NM_001277115.2(DNAH11):c.8798-1G>A
NM_001277115.2(DNAH11):c.8798-2A>G
NM_001277115.2(DNAH11):c.8940+1G>A
NM_001277115.2(DNAH11):c.9484-18_9486del rs1788083949
NM_001277115.2(DNAH11):c.9598-1G>C
NM_001277115.2(DNAH11):c.982+1G>C
NM_001277115.2(DNAH11):c.9924+1G>A rs1554281038

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