ClinVar Miner

List of variants in gene PEX5 studied for adrenal gland disease

Included ClinVar conditions (131):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_000319.5(PEX5):c.1395G>T (p.Glu465Asp)
NM_000319.5(PEX5):c.147+77_147+121del
NM_000319.5(PEX5):c.155A>G (p.Lys52Arg)
NM_000319.5(PEX5):c.1745G>A (p.Arg582Gln)
NM_000319.5(PEX5):c.1753C>T (p.Arg585Trp)
NM_000319.5(PEX5):c.1813A>G (p.Met605Val)
NM_000319.5(PEX5):c.1850C>T (p.Ala617Val)
NM_000319.5(PEX5):c.41C>T (p.Ala14Val)
NM_000319.5(PEX5):c.517C>A (p.Leu173Met)
NM_000319.5(PEX5):c.710G>A (p.Arg237Gln)
NM_000319.5(PEX5):c.83A>G (p.Lys28Arg)
NM_001131023.1(PEX5):c.649G>C (p.Val217Leu) rs149102738
NM_001131023.1(PEX5):c.860T>C (p.Met287Thr) rs76708142
NM_001131025.1(PEX5):c.1111-4C>G rs376699778
NM_001131025.1(PEX5):c.1178G>A (p.Arg393Gln) rs145690714
NM_001131025.1(PEX5):c.1245C>T (p.Asn415=) rs138243167
NM_001131025.1(PEX5):c.1292G>A (p.Arg431Gln) rs144901507
NM_001131025.1(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001131025.1(PEX5):c.1439G>A (p.Arg480Gln) rs759523235
NM_001131025.1(PEX5):c.1521C>T (p.Ala507=) rs150761638
NM_001131025.1(PEX5):c.1522G>A (p.Val508Met) rs138028549
NM_001131025.1(PEX5):c.1548C>T (p.Ser516=) rs143571888
NM_001131025.1(PEX5):c.1559A>G (p.Asn520Ser) rs139364109
NM_001131025.1(PEX5):c.1567T>C (p.Leu523=) rs144165818
NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001131025.1(PEX5):c.1632G>A (p.Ala544=) rs115338343
NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys) rs759334733
NM_001131025.1(PEX5):c.1638C>T (p.Arg546=) rs142408719
NM_001131025.1(PEX5):c.164G>T (p.Gly55Val) rs752097814
NM_001131025.1(PEX5):c.1707C>T (p.Leu569=) rs151312595
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) rs146567534
NM_001131025.1(PEX5):c.1872C>T (p.Asp624=) rs148914171
NM_001131025.1(PEX5):c.1897A>C (p.Thr633Pro) rs200471952
NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile) rs145886418
NM_001131025.1(PEX5):c.316+3G>A rs200776790
NM_001131025.1(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly) rs143307183
NM_001131025.1(PEX5):c.452C>G (p.Pro151Arg) rs200720523
NM_001131025.1(PEX5):c.471C>T (p.Ala157=) rs144331955
NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu) rs751043763
NM_001131025.1(PEX5):c.552-7G>A rs189631769
NM_001131025.1(PEX5):c.590C>T (p.Thr197Met) rs144897942
NM_001131025.1(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001131025.1(PEX5):c.680T>C (p.Val227Ala) rs777842778
NM_001131025.1(PEX5):c.754-4G>A rs111286659
NM_001131025.1(PEX5):c.831C>T (p.Ala277=) rs747216258
NM_001131025.1(PEX5):c.966+3G>A rs373763823
NM_001131025.2(PEX5):c.230G>A rs780957318
NM_001131025.2(PEX5):c.533G>A rs749729761
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=) rs775565970
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu)
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val)
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu)
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)
NM_001351132.2(PEX5):c.148-7C>T rs1295383488
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp)
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His)
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=) rs755919579
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg)
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter)
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe)
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg)
NM_001351132.2(PEX5):c.552-9C>A
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu)
NM_001351132.2(PEX5):c.63C>T (p.Ala21=) rs374590365
NM_001351132.2(PEX5):c.642+6C>T
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp) rs200020561
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala)
NM_001351132.2(PEX5):c.705G>A (p.Ser235=) rs184234003
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter)
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe)
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser)
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175

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