ClinVar Miner

List of variants in gene PLEKHG5 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.-88+6188G>A rs577217925 0.02161
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997 0.00006
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=) rs777414805 0.00003
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) rs147386989 0.00002
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020631.6(PLEKHG5):c.-88+6208C>T
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_198681.4(PLEKHG5):c.-120C>T rs201669114

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