ClinVar Miner

List of variants in gene LOC129998796, PEX1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_000466.3(PEX1):c.-19A>G rs368326503 0.00016
NM_000466.3(PEX1):c.23C>A (p.Ala8Glu) rs537242377 0.00007
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.-45T>C rs886062509 0.00001
NM_000466.3(PEX1):c.-77C>G rs1301449696 0.00001
NM_000466.3(PEX1):c.15T>A (p.Asp5Glu) rs201385649 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu) rs747408581 0.00001
NM_000466.3(PEX1):c.39C>G (p.Gly13=) rs746171089 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000466.3(PEX1):c.87C>T (p.Leu29=) rs1348692744 0.00001
NC_000007.14:g.92528411_92528711del rs2116299216
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-82C>G rs1169565016
NM_000466.3(PEX1):c.12C>T (p.Ser4=) rs1793405237
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu) rs1261327878
NM_000466.3(PEX1):c.19C>T (p.Leu7=)
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.21G>A (p.Leu7=)
NM_000466.3(PEX1):c.24G>T (p.Ala8=) rs1334167324
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp)
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
NM_000466.3(PEX1):c.33G>A (p.Gly11=)
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) rs1793402720
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala) rs747408581
NM_000466.3(PEX1):c.36A>G (p.Gly12=) rs775940490
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
NM_000466.3(PEX1):c.39C>A (p.Gly13=) rs746171089
NM_000466.3(PEX1):c.39C>T (p.Gly13=)
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.42G>A (p.Gly14=) rs1793401122
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.46del (p.Ala16fs)
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
NM_000466.3(PEX1):c.54T>C (p.Thr18=) rs2116298890
NM_000466.3(PEX1):c.54T>G (p.Thr18=)
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.57G>A (p.Val19=) rs934266708
NM_000466.3(PEX1):c.60C>G (p.Ala20=) rs2116298824
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser) rs1793399605
NM_000466.3(PEX1):c.69C>T (p.Asn23=)
NM_000466.3(PEX1):c.74G>A (p.Arg25His)
NM_000466.3(PEX1):c.75C>A (p.Arg25=) rs2116298678
NM_000466.3(PEX1):c.75C>T (p.Arg25=)
NM_000466.3(PEX1):c.78C>T (p.Asp26=)
NM_000466.3(PEX1):c.84C>T (p.Phe28=) rs1263087011
NM_000466.3(PEX1):c.8dup (p.Ser4fs)

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