ClinVar Miner

List of variants in gene GATAD1, PEX1 studied for Zellweger syndrome

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Total variants: 37
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HGVS dbSNP
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2926+1del
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2926+4A>G
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899
NM_000466.3(PEX1):c.3208-3T>C
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718

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