ClinVar Miner

List of variants in gene PEX1 reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.2(PEX1):c.2584-11_2584-10delTT rs5885806
NM_000466.3(PEX1):c.-19A>G rs368326503
NM_000466.3(PEX1):c.-43T>G rs572810743
NM_000466.3(PEX1):c.-45T>C rs886062509
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.122_124TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1360-4G>T rs199716270
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.1524_1529AAAAGA[1] (p.508_509EK[1]) rs1554373613
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser)
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg)
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9del rs886062504
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.2783+6T>C
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506

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