ClinVar Miner

List of variants in gene DNAL1 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_031427.4(DNAL1):c.532+11C>T rs72721725 0.04594
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.517C>T (p.Leu173=) rs35284335 0.00056
NM_031427.4(DNAL1):c.42+9A>G rs751332640 0.00008
NM_031427.4(DNAL1):c.*4427del rs398025673
NM_031427.4(DNAL1):c.*6016del rs10594595

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