ClinVar Miner

List of variants studied for Zellweger syndrome by Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.3(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000288.3(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.3(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.3(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000318.2(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000466.2(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.2(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.2(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.2(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.2(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_002618.3(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_004565.2(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_017929.5(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_017929.5(PEX26):c.571C>T (p.Arg191Trp) rs150451390
NM_057174.2(PEX16):c.461A>G (p.Asp154Gly) rs140695185
NM_057174.2(PEX16):c.695-6C>T rs372182266
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380

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