ClinVar Miner

List of variants studied for classic organic aciduria by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000282.3(PCCA):c.183delA rs879253812
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.562+1G>A rs869320656

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