ClinVar Miner

List of variants in gene MCCC2 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: 86
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HGVS dbSNP
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1351G>A
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*970G>A
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1072+9G>A
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
NM_022132.5(MCCC2):c.1216+8A>G
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
NM_022132.5(MCCC2):c.1488+10G>A rs190514867
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1488+9C>G
NM_022132.5(MCCC2):c.1488+9C>T
NM_022132.5(MCCC2):c.1489-16G>A
NM_022132.5(MCCC2):c.1489-4T>C
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+7G>T
NM_022132.5(MCCC2):c.1575-5G>T
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
NM_022132.5(MCCC2):c.384-8C>G
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
NM_022132.5(MCCC2):c.738+8C>A
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.739-7G>C
NM_022132.5(MCCC2):c.739-7G>T
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663
NM_022132.5(MCCC2):c.803+7C>T
NM_022132.5(MCCC2):c.803+9_803+10del
NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
NM_022132.5(MCCC2):c.904-10A>G
NM_022132.5(MCCC2):c.904-4G>T
NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
NM_022132.5(MCCC2):c.987T>C (p.Phe329=)

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