ClinVar Miner

List of variants in gene MCCC1 reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
NM_020166.5(MCCC1):c.1083+10T>A
NM_020166.5(MCCC1):c.1083+9A>T
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
NM_020166.5(MCCC1):c.1267+9A>G
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+7A>G rs559629034
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
NM_020166.5(MCCC1):c.165A>G (p.Ala55=)
NM_020166.5(MCCC1):c.1681+9T>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1977+7A>G
NM_020166.5(MCCC1):c.1978-8del
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.2049+10T>C
NM_020166.5(MCCC1):c.2049+9A>G
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
NM_020166.5(MCCC1):c.411A>G (p.Glu137=)
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.492-7T>C
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
NM_020166.5(MCCC1):c.640-10T>C
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.759G>A (p.Pro253=)
NM_020166.5(MCCC1):c.762-5T>C
NM_020166.5(MCCC1):c.762-9T>C
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.874-95A>G
NM_020166.5(MCCC1):c.90-7G>A
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.99G>A (p.Val33=)

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