ClinVar Miner

List of variants reported as likely pathogenic for Propionic acidemia by Baylor Genetics

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2119-9A>G rs1389933015 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) rs2053984648 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs) rs1481849460 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000282.4(PCCA):c.105+1G>C
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.106-2A>G
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1541-1G>C
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
NM_000282.4(PCCA):c.1899+1G>T
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041_2044del
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+1G>C
NM_000282.4(PCCA):c.415-1G>C
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.447del (p.Asn149fs)
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
NM_000282.4(PCCA):c.716+2T>C
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.820-1G>T
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
NM_000282.4(PCCA):c.914+1G>A
NM_000532.5(PCCB):c.1199-1G>A
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1399-1G>C
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+5G>T
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>C
NM_000532.5(PCCB):c.187_203del rs2108137253
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs) rs2108146615
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.543+2T>G
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000532.5(PCCB):c.854del (p.Pro285fs)
NM_000532.5(PCCB):c.884+1G>A
NM_000532.5(PCCB):c.967-2A>C rs1553782747

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