ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 16 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_031427.4(DNAL1):c.532+11C>T rs72721725 0.04577
NM_031427.4(DNAL1):c.391+9A>G rs149911093 0.00635
NM_031427.4(DNAL1):c.153-12G>C rs201880561 0.00394
NM_031427.4(DNAL1):c.4-15T>C rs185924269 0.00204
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00193
NM_031427.4(DNAL1):c.517C>T (p.Leu173=) rs35284335 0.00056
NM_031427.4(DNAL1):c.492A>G (p.Glu164=) rs150636700 0.00017
NM_031427.4(DNAL1):c.6G>A (p.Ala2=) rs1265630707 0.00011
NM_031427.4(DNAL1):c.42+9A>G rs751332640 0.00010
NM_031427.4(DNAL1):c.243C>T (p.Asn81=) rs886050685 0.00009
NM_031427.4(DNAL1):c.4-10T>G rs776047200 0.00005
NM_031427.4(DNAL1):c.132G>A (p.Leu44=) rs202161399 0.00003
NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser) rs374916869 0.00003
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp) rs774964160 0.00003
NM_031427.4(DNAL1):c.153-20T>G rs767415680 0.00002
NM_031427.4(DNAL1):c.209-13C>G rs747302116 0.00002
NM_031427.4(DNAL1):c.4-4A>T rs576147534 0.00002
NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys) rs190778454 0.00002
NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg) rs781680294 0.00001
NM_031427.4(DNAL1):c.234A>G (p.Gly78=) rs746314619 0.00001
NM_031427.4(DNAL1):c.264+4G>C rs773731641 0.00001
NM_031427.4(DNAL1):c.265-17A>T rs1308650887 0.00001
NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter) rs1252878067 0.00001
NM_031427.4(DNAL1):c.3+17C>T rs747011129 0.00001
NM_031427.4(DNAL1):c.3+8C>G rs1456527977 0.00001
NM_031427.4(DNAL1):c.348A>G (p.Lys116=) rs186927207 0.00001
NM_031427.4(DNAL1):c.349T>C (p.Leu117=) rs757631296 0.00001
NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr) rs763932147 0.00001
NM_031427.4(DNAL1):c.35C>T (p.Ala12Val) rs948104206 0.00001
NM_031427.4(DNAL1):c.43-4A>G rs748496499 0.00001
NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter) rs372572996 0.00001
NM_031427.4(DNAL1):c.498A>T (p.Ala166=) rs770681880 0.00001
NC_000014.8:g.(?_74111723)_(74727642_?)dup
NC_000014.8:g.(?_74111743)_(74551097_?)del
NC_000014.8:g.(?_74153942)_(74156238_?)del
NC_000014.9:g.(?_73671522)_(73671617_?)del
NC_000014.9:g.(?_73671542)_(73671597_?)del
NM_031427.4(DNAL1):c.129C>T (p.Ser43=) rs2140030998
NM_031427.4(DNAL1):c.136A>G (p.Met46Val) rs2140031013
NM_031427.4(DNAL1):c.152+14T>C rs1891277009
NM_031427.4(DNAL1):c.153-7T>C rs1239414588
NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala) rs2502964445
NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln) rs1595207277
NM_031427.4(DNAL1):c.209-12_209-8del rs776621962
NM_031427.4(DNAL1):c.209-18G>A
NM_031427.4(DNAL1):c.209-20A>G
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_031427.4(DNAL1):c.253T>C (p.Leu85=)
NM_031427.4(DNAL1):c.264+13TTA[2] rs775440642
NM_031427.4(DNAL1):c.264+14_264+17del
NM_031427.4(DNAL1):c.265-12G>C rs2503010380
NM_031427.4(DNAL1):c.265-15T>A rs2503010332
NM_031427.4(DNAL1):c.265-9C>T
NM_031427.4(DNAL1):c.279C>T (p.Asp93=) rs1346829170
NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del) rs1595224083
NM_031427.4(DNAL1):c.3+18C>T
NM_031427.4(DNAL1):c.3+9C>A rs572913041
NM_031427.4(DNAL1):c.321G>A (p.Lys107=) rs2503010562
NM_031427.4(DNAL1):c.330G>A (p.Gly110=) rs1324085980
NM_031427.4(DNAL1):c.384del (p.Asp129fs) rs1060501178
NM_031427.4(DNAL1):c.391+15G>A
NM_031427.4(DNAL1):c.391+16C>T
NM_031427.4(DNAL1):c.392-13_392-11del
NM_031427.4(DNAL1):c.4-19C>T rs939651787
NM_031427.4(DNAL1):c.4-19_4-15del
NM_031427.4(DNAL1):c.42+13G>A rs2502964567
NM_031427.4(DNAL1):c.42+8C>T rs1891180396
NM_031427.4(DNAL1):c.43-9T>C rs1595204699
NM_031427.4(DNAL1):c.462G>A (p.Glu154=)
NM_031427.4(DNAL1):c.471T>A (p.Ser157=)
NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser) rs1595225843
NM_031427.4(DNAL1):c.483C>T (p.Asn161=) rs1158299457
NM_031427.4(DNAL1):c.503del (p.Lys168fs) rs1294769916
NM_031427.4(DNAL1):c.516del (p.Lys172fs) rs1892115085
NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly) rs1892115500
NM_031427.4(DNAL1):c.532+11C>G rs72721725
NM_031427.4(DNAL1):c.533-2A>G rs1555403597
NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys) rs2503023554

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