ClinVar Miner

List of variants in gene PEX5 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001351132.2(PEX5):c.*20G>C rs145760932 0.00512
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln) rs145690714 0.00070
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001351132.2(PEX5):c.1718+17A>G rs375272295 0.00031
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 0.00016
NM_001351132.2(PEX5):c.129A>G (p.Gly43=) rs932238098 0.00015
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00012
NM_001351132.2(PEX5):c.258C>T (p.Asp86=) rs144351488 0.00011
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 0.00009
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=) rs371233272 0.00009
NM_001351132.2(PEX5):c.754-5C>T rs377379933 0.00009
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=) rs755919579 0.00008
NM_001351132.2(PEX5):c.642+6C>T rs376779359 0.00008
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.156G>A (p.Lys52=) rs1374555547 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.1111-4C>G rs376699778 0.00002
NM_001351132.2(PEX5):c.63C>T (p.Ala21=) rs374590365 0.00002
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp) rs767306549 0.00002
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=) rs775565970 0.00001
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=) rs140330381 0.00001
NM_001351132.2(PEX5):c.216A>G (p.Ala72=) rs1941051265 0.00001
NM_001351132.2(PEX5):c.381T>C (p.Asp127=) rs201467035 0.00001
NM_001351132.2(PEX5):c.801A>G (p.Thr267=) rs1243197291 0.00001
NM_001351132.2(PEX5):c.*9C>T
NM_001351132.2(PEX5):c.1111-6C>T
NM_001351132.2(PEX5):c.1413G>A (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+32_147+121del
NM_001351132.2(PEX5):c.148-7_148-4del
NM_001351132.2(PEX5):c.1480T>C (p.Leu494=) rs1199150044
NM_001351132.2(PEX5):c.1701C>T (p.Ile567=)
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
NM_001351132.2(PEX5):c.18G>A (p.Leu6=)
NM_001351132.2(PEX5):c.1914C>G (p.Pro638=)
NM_001351132.2(PEX5):c.317-10C>T
NM_001351132.2(PEX5):c.448+10G>C
NM_001351132.2(PEX5):c.48G>A (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.48G>C (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.665T>C (p.Ile222Thr)
NM_001351132.2(PEX5):c.948G>A (p.Thr316=)

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