List of variants in gene DNAL1 reported as uncertain significance by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
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.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.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.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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