ClinVar Miner

List of variants reported as uncertain significance for Zellweger syndrome by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser)
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=)
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys)
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe)
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) rs745620818
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.3(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys)
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)
NM_017929.6(PEX26):c.710G>A (p.Arg237His)
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.899G>A (p.Arg300His) rs758678654

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