ClinVar Miner

List of variants in gene DNAL1 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
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.*6161_*6162insCA rs886050720 0.00025
NM_031427.4(DNAL1):c.*5630del rs746876867 0.00018
NM_031427.4(DNAL1):c.*2600_*2604del rs770668475 0.00011
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.221T>G (p.Ile74Arg) rs781680294 0.00001
NM_031427.4(DNAL1):c.264+4G>C rs773731641 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.490G>A (p.Glu164Lys) rs190778454 0.00001
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.*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.*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.136A>G (p.Met46Val) rs2140031013
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.263T>C (p.Leu88Pro) rs2140042513
NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del) rs1595224083
NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser) rs1595225843
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.533-2A>G rs1555403597
NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys)

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