ClinVar Miner

List of variants in gene DNAL1 studied for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_031427.4(DNAL1):c.532+11C>T rs72721725 0.04594
NM_031427.4(DNAL1):c.*7710_*7711dup rs201343251 0.04579
NM_031427.4(DNAL1):c.391+9A>G rs149911093 0.00668
NM_031427.4(DNAL1):c.153-12G>C rs201880561 0.00436
NM_031427.4(DNAL1):c.4-15T>C rs185924269 0.00204
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_031427.4(DNAL1):c.*2923dup rs568527612 0.00091
NM_031427.4(DNAL1):c.517C>T (p.Leu173=) rs35284335 0.00056
NM_031427.4(DNAL1):c.*6161_*6162insCA rs886050720 0.00025
NM_031427.4(DNAL1):c.*5630del rs746876867 0.00018
NM_031427.4(DNAL1):c.492A>G (p.Glu164=) rs150636700 0.00016
NM_031427.4(DNAL1):c.*2600_*2604del rs770668475 0.00011
NM_031427.4(DNAL1):c.6G>A (p.Ala2=) rs1265630707 0.00011
NM_031427.4(DNAL1):c.4-10T>G rs776047200 0.00010
NM_031427.4(DNAL1):c.243C>T (p.Asn81=) rs886050685 0.00009
NM_031427.4(DNAL1):c.42+9A>G rs751332640 0.00008
NM_031427.4(DNAL1):c.43-4A>G rs748496499 0.00004
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp) rs774964160 0.00003
NM_031427.4(DNAL1):c.22_24del (p.Lys8del) rs779309893 0.00002
NM_031427.4(DNAL1):c.4-4A>T rs576147534 0.00002
NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg) rs781680294 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.348A>G (p.Lys116=) rs186927207 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.486G>A (p.Trp162Ter) rs372572996 0.00001
NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys) rs190778454 0.00001
NM_031427.4(DNAL1):c.498A>T (p.Ala166=) rs770681880 0.00001
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.*1823del rs59065500
NM_031427.4(DNAL1):c.*1824del rs886050695
NM_031427.4(DNAL1):c.*2570del rs746527785
NM_031427.4(DNAL1):c.*3110_*3111dup rs769560403
NM_031427.4(DNAL1):c.*334del rs147394906
NM_031427.4(DNAL1):c.*3356del rs529762916
NM_031427.4(DNAL1):c.*4427del rs398025673
NM_031427.4(DNAL1):c.*6015_*6016del rs10594595
NM_031427.4(DNAL1):c.*6016del rs10594595
NM_031427.4(DNAL1):c.*6137del rs886050714
NM_031427.4(DNAL1):c.*6138TG[10] rs10679978
NM_031427.4(DNAL1):c.*6138TG[12] rs10679978
NM_031427.4(DNAL1):c.*6138TG[14] rs10679978
NM_031427.4(DNAL1):c.*6138TG[15] rs10679978
NM_031427.4(DNAL1):c.*6138TG[16] rs10679978
NM_031427.4(DNAL1):c.*6147_*6148insCG rs886050719
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG rs1555340583
NM_031427.4(DNAL1):c.*6216dup rs779734012
NM_031427.4(DNAL1):c.*6341_*6343del rs886050724
NM_031427.4(DNAL1):c.*7017dup rs367557905
NM_031427.4(DNAL1):c.*7414_*7419del rs886050727
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
NM_031427.4(DNAL1):c.153-20T>G
NM_031427.4(DNAL1):c.153-7T>C rs1239414588
NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala)
NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln) rs1595207277
NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser)
NM_031427.4(DNAL1):c.209-12_209-8del
NM_031427.4(DNAL1):c.209-13C>G
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_031427.4(DNAL1):c.234A>G (p.Gly78=) rs746314619
NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)
NM_031427.4(DNAL1):c.263T>C (p.Leu88Pro) rs2140042513
NM_031427.4(DNAL1):c.264+13TTA[2]
NM_031427.4(DNAL1):c.265-12G>C
NM_031427.4(DNAL1):c.265-15T>A
NM_031427.4(DNAL1):c.279C>T (p.Asp93=)
NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del) rs1595224083
NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)
NM_031427.4(DNAL1):c.3+17C>T
NM_031427.4(DNAL1):c.3+8C>G
NM_031427.4(DNAL1):c.3+9C>A rs572913041
NM_031427.4(DNAL1):c.321G>A (p.Lys107=)
NM_031427.4(DNAL1):c.330G>A (p.Gly110=) rs1324085980
NM_031427.4(DNAL1):c.349T>C (p.Leu117=)
NM_031427.4(DNAL1):c.384del (p.Asp129fs) rs1060501178
NM_031427.4(DNAL1):c.4-19C>T rs939651787
NM_031427.4(DNAL1):c.42+13G>A
NM_031427.4(DNAL1):c.42+8C>T rs1891180396
NM_031427.4(DNAL1):c.43-9T>C rs1595204699
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser) rs387907021
NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser) rs1595225843
NM_031427.4(DNAL1):c.483C>T (p.Asn161=)
NM_031427.4(DNAL1):c.503del (p.Lys168fs) rs1294769916
NM_031427.4(DNAL1):c.516del (p.Lys172fs)
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)

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