ClinVar Miner

List of variants reported as pathogenic for Pyruvate carboxylase deficiency by Invitae

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) rs766242199 0.00001
NC_000011.9:g.(?_66618135)_(66639640_?)del
NM_001040716.2(PC):c.1023-1G>A rs2135917561
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter) rs2135917452
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs) rs2135917229
NM_001040716.2(PC):c.1084del (p.Leu362fs) rs2135917031
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter) rs1310884700
NM_001040716.2(PC):c.1168dup (p.Asp390fs) rs1946484568
NM_001040716.2(PC):c.1333del (p.Arg445fs)
NM_001040716.2(PC):c.1339del (p.Ala448fs)
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter) rs2135903791
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
NM_001040716.2(PC):c.1465del (p.Gln489fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs) rs2135814786
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter) rs2135809396
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) rs113994146
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs) rs2135803326
NM_001040716.2(PC):c.2253del (p.Cys752fs)
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs) rs2135800153
NM_001040716.2(PC):c.2473+2_2473+5del
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2581del (p.Val861fs) rs2135795582
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
NM_001040716.2(PC):c.2953del (p.Leu985fs) rs2135790424
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs) rs2135789146
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
NM_001040716.2(PC):c.3164del (p.Gly1055fs) rs2135786710
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
NM_001040716.2(PC):c.3190del (p.Ala1064fs) rs2135786512
NM_001040716.2(PC):c.321+1G>T rs2135941937
NM_001040716.2(PC):c.3288+1G>A
NM_001040716.2(PC):c.3288+1G>T rs2135785399
NM_001040716.2(PC):c.3288+2T>C rs2135785388
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
NM_001040716.2(PC):c.3387del (p.Lys1130fs) rs2135783409
NM_001040716.2(PC):c.364del (p.Ser122fs)
NM_001040716.2(PC):c.366dup (p.Glu123Ter) rs2135940752
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001040716.2(PC):c.913G>T (p.Glu305Ter) rs1487446205

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