ClinVar Miner

List of variants in gene DNAH11 reported as uncertain significance for Ciliary dyskinesia, primary, 7

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Gene type:
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Total variants: 100
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HGVS dbSNP
NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)
NM_001277115.2(DNAH11):c.1035C>T (p.His345=)
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895
NM_001277115.2(DNAH11):c.10523A>G (p.Asn3508Ser)
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met) rs368052967
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341
NM_001277115.2(DNAH11):c.10692-7C>T rs368833367
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)
NM_001277115.2(DNAH11):c.10795C>G (p.Gln3599Glu)
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=) rs766635238
NM_001277115.2(DNAH11):c.11203-9A>G
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) rs199864090
NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser) rs375636554
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu)
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.1151T>A (p.Val384Asp)
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=)
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794
NM_001277115.2(DNAH11):c.12388-4A>G
NM_001277115.2(DNAH11):c.12406C>T (p.Arg4136Cys)
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=) rs764262245
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser) rs12537531
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp) rs374787771
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)
NM_001277115.2(DNAH11):c.13091G>A (p.Trp4364Ter) rs1562611868
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys)
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=) rs369146775
NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=)
NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=)
NM_001277115.2(DNAH11):c.2226A>G (p.Ile742Met)
NM_001277115.2(DNAH11):c.2237C>T (p.Ala746Val)
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=)
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=) rs564401238
NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=)
NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn) rs180920616
NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys)
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn) rs754921505
NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)
NM_001277115.2(DNAH11):c.3649-14C>G
NM_001277115.2(DNAH11):c.3786A>G (p.Arg1262=) rs756045492
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=) rs138071140
NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg)
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309
NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly)
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu) rs753773546
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=) rs564202359
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) rs72657327
NM_001277115.2(DNAH11):c.480T>G (p.Ser160=)
NM_001277115.2(DNAH11):c.4828T>C (p.Cys1610Arg)
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967
NM_001277115.2(DNAH11):c.496-10C>G
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949
NM_001277115.2(DNAH11):c.5094+4A>G rs769984539
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly) rs772740368
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln) rs544234928
NM_001277115.2(DNAH11):c.6513T>C (p.Phe2171=)
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
NM_001277115.2(DNAH11):c.6859C>T (p.Arg2287Cys)
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu) rs376475480
NM_001277115.2(DNAH11):c.693-14C>G
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu) rs745645801
NM_001277115.2(DNAH11):c.6999G>T (p.Trp2333Cys)
NM_001277115.2(DNAH11):c.7068A>C (p.Ala2356=)
NM_001277115.2(DNAH11):c.7135-14T>G
NM_001277115.2(DNAH11):c.7266+5G>A rs149364992
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val) rs189000268
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp) rs188615176
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His) rs752284064
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=)
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=) rs367806628
NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala)
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys)
NM_001277115.2(DNAH11):c.8797+12A>C
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)
NM_001277115.2(DNAH11):c.9209C>G (p.Thr3070Ser)
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=)
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612
NM_001277115.2(DNAH11):c.9924+12A>G

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