List of variants in gene ADSL reported as likely pathogenic

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: 45

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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.-49T>C	rs1272053459	0.00002
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	rs756210458	0.00002
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)	rs774159147	0.00001
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)	rs758895348	0.00001
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	rs370851726	0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	rs752104617	0.00001
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)	rs755492501	0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	rs763542069	0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	rs777821034	0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	rs771121666	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.357+1G>A	rs1275901345	0.00001
NM_000026.4(ADSL):c.563G>A (p.Arg188His)	rs761937276	0.00001
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	rs1465152683	0.00001
NM_000026.4(ADSL):c.702-2A>G	rs1268264761	0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	rs1257907226	0.00001
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	rs779612414	0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	rs202064195	0.00001
NC_000022.10:g.(?_40760260)_(40762546_?)del
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.-21T>A
NM_000026.4(ADSL):c.1010+1G>C
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.1152CAT[2] (p.Ile386del)	rs1601596522
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)	rs796052252
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	rs775671027
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	rs1057521071
NM_000026.4(ADSL):c.153+1G>T	rs1555903969
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	rs1035500320
NM_000026.4(ADSL):c.358-1G>C	rs2146634231
NM_000026.4(ADSL):c.402+1G>T	rs761551284
NM_000026.4(ADSL):c.403-1G>C
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	rs563054392
NM_000026.4(ADSL):c.482+1G>C
NM_000026.4(ADSL):c.581G>A (p.Arg194His)	rs755359802
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	rs1601586359
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp)	rs796052244
NM_000026.4(ADSL):c.994G>C (p.Asp332His)	rs776496275

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