ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) rs62636519
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter) rs61752137
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del)
NM_017929.6(PEX26):c.230+1G>T rs267608190
NM_017929.6(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_017929.6(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_017929.6(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_017929.6(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_057174.2(PEX16):c.526C>T (p.Arg176Ter) rs61752117
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) rs61752092
PEX1, 1-BP DEL, 2916A
PEX10, 2-BP DEL, 814CT
PEX12, 1-BP INS, 744T
PEX12, 4-BP DEL, 684TAGT
PEX12, 4-BP INS, 733GCCT
PEX13, 14-BP DEL, EXON 2
PEX13, 147-KB DEL
PEX14, 41-KB DEL
PEX16, IVSDS10, T-C, +2
PEX19, 1-BP DEL, 320A
PEX19, 1-BP INS, 764A
PEX3, 1-BP INS, 543T
PEX3, IVS10AS, T-G, -8
PEX6, 1-BP DEL, 1301C
PEX6, 1-BP INS, NT511
PEX6, IVS3DS, G-A, +1
PEX6, IVS7, G-A, +1
PEX6, IVSAS, G-A, -1, 8-BP DEL

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