ClinVar Miner

List of variants in gene PLEKHG5 reported as benign

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_198681.4(PLEKHG5):c.-503G>A rs1010584 0.76606
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_198681.4(PLEKHG5):c.-164-380T>G rs3007430 0.27661
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_020631.6(PLEKHG5):c.-88+6307T>A rs75490131 0.25753
NM_020631.6(PLEKHG5):c.-88+5858G>A rs6693457 0.25085
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_020631.6(PLEKHG5):c.3012-113G>A rs9435269 0.20413
NM_020631.5(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_020631.6(PLEKHG5):c.1800+107C>T rs3007421 0.18161
NM_020631.6(PLEKHG5):c.-88+1192G>A rs11806429 0.15681
NM_198681.4(PLEKHG5):c.-313C>G rs41278014 0.15281
NM_020631.6(PLEKHG5):c.302+59T>C rs77777178 0.14105
NM_020631.6(PLEKHG5):c.303-134C>T rs2986751 0.13544
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.5(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_020631.6(PLEKHG5):c.-88+5868C>G rs145141925 0.08529
NM_020631.6(PLEKHG5):c.302+176T>C rs112653986 0.08278
NM_020631.6(PLEKHG5):c.1801-87C>G rs3007420 0.07044
NM_020631.6(PLEKHG5):c.1801-71G>A rs77492523 0.07026
NM_020631.6(PLEKHG5):c.591+71G>A rs74049586 0.06730
NM_020631.6(PLEKHG5):c.591+52G>A rs58549010 0.06723
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_198681.4(PLEKHG5):c.-164-975G>A rs112475272 0.06110
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_198681.4(PLEKHG5):c.-164-994G>C rs147932947 0.05130
NM_020631.6(PLEKHG5):c.1081-98G>A rs75682285 0.04748
NM_020631.6(PLEKHG5):c.-88+5779C>G rs116507160 0.03644
NM_020631.6(PLEKHG5):c.-88+6634G>T rs3007424 0.03349
NM_020631.6(PLEKHG5):c.211-44C>T rs113224596 0.03153
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.592-51G>A rs74049585 0.02563
NM_020631.6(PLEKHG5):c.591+69C>G rs74049587 0.02548
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.-88+6188G>A rs577217925 0.02161
NM_198681.4(PLEKHG5):c.-164-664C>T rs181025240 0.02133
NM_020631.5(PLEKHG5):c.*765T>A rs538175057 0.01642
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.1282-193C>T rs150855955 0.01624
NM_020631.6(PLEKHG5):c.1282-111T>C rs186051032 0.01611
NM_020631.5(PLEKHG5):c.*1313C>T rs45574533 0.01380
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.*63C>T rs45446394 0.00800
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_020631.5(PLEKHG5):c.*1052G>A rs148036862 0.00467
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_020631.6(PLEKHG5):c.592-14C>T rs554879611 0.00165
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221 0.00158
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021 0.00109
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=) rs140892576 0.00107
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020631.6(PLEKHG5):c.1934-16G>A rs201675267 0.00009
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=) rs200400689 0.00004
NM_020631.6(PLEKHG5):c.302+10G>T rs201663755 0.00003
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.2250-13C>T rs547780813 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020631.5(PLEKHG5):c.*1158G>C rs2986754
NM_020631.5(PLEKHG5):c.*1376_*1379delGCGG rs45542640
NM_020631.5(PLEKHG5):c.*697C>T rs3176900
NM_020631.6(PLEKHG5):c.-88+1153_-88+1160del rs141955211
NM_020631.6(PLEKHG5):c.-88+5658_-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.-88+5659del rs372606355
NM_020631.6(PLEKHG5):c.-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_020631.6(PLEKHG5):c.1393-8dup
NM_020631.6(PLEKHG5):c.1542+28C>A rs75081587
NM_020631.6(PLEKHG5):c.1801-15del rs750991690
NM_020631.6(PLEKHG5):c.1801-15dup
NM_020631.6(PLEKHG5):c.210+14dup
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.6(PLEKHG5):c.302+16del
NM_020631.6(PLEKHG5):c.591+15del
NM_020631.6(PLEKHG5):c.591+28G>C rs76386795

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