ClinVar Miner

List of variants studied for Pyruvate carboxylase deficiency by Baylor Genetics

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.1-4C>A rs1313846853 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.156dup (p.Phe53fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
NM_001040716.2(PC):c.1825+2T>G
NM_001040716.2(PC):c.1825+3A>C rs1945555370
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.1980del (p.Phe660fs)
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
NM_001040716.2(PC):c.2866dup (p.His956fs)
NM_001040716.2(PC):c.295del (p.Ile99fs)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3146_3147+1del
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) rs1945302855
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
NM_001040716.2(PC):c.488-6C>A
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.634-1G>A
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter) rs1230803568

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