List of variants in gene ADSL reported as likely pathogenic by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)	rs373458753	0.00005
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)	rs536254357	0.00004
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	rs28941471	0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	rs119450944	0.00003
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	rs756210458	0.00002
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)	rs758895348	0.00001
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)	rs372895468	0.00001
NM_000026.4(ADSL):c.1414T>C (p.Tyr472His)	rs1057521795	0.00001
NM_000026.4(ADSL):c.563G>A (p.Arg188His)	rs761937276	0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	rs202064195	0.00001
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)	rs879257322
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter)	rs1555908924
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)	rs796052252
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	rs1057521071
NM_000026.4(ADSL):c.402+1G>T	rs761551284
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp)	rs796052244

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