ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 1A (Zellweger) by Counsyl

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
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.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507

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