ClinVar Miner

List of variants in gene PLEKHG5 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1080+270T>C rs114359340 0.01814
NM_020631.6(PLEKHG5):c.3012-79C>T rs78137382 0.01618
NM_020631.6(PLEKHG5):c.592-185C>T rs114346708 0.01433
NM_020631.6(PLEKHG5):c.211-76A>G rs548502409 0.01335
NM_020631.4(PLEKHG5):c.-5220C>G rs145275535 0.01284
NM_020631.6(PLEKHG5):c.302+144G>A rs141393320 0.01007
NM_020631.6(PLEKHG5):c.-88+6354A>C rs534856650 0.00821
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00723
NM_198681.4(PLEKHG5):c.-164-1030C>T rs557475856 0.00672
NM_020631.6(PLEKHG5):c.-88+6000C>T rs6683862 0.00658
NM_020631.4(PLEKHG5):c.-5851T>C rs549207658 0.00576
NM_020631.6(PLEKHG5):c.592-75C>A rs140246821 0.00548
NM_020631.6(PLEKHG5):c.210+79A>T rs58196009 0.00524
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00490
NM_020631.6(PLEKHG5):c.1801-113A>C rs138957573 0.00470
NM_020631.6(PLEKHG5):c.2250-88T>C rs114215729 0.00468
NM_020631.6(PLEKHG5):c.591+185C>G rs142544613 0.00465
NM_020631.6(PLEKHG5):c.44-300C>T rs139002984 0.00459
NM_020631.6(PLEKHG5):c.1392+40G>C rs181693536 0.00450
NM_020631.6(PLEKHG5):c.2249+49T>C rs138018808 0.00449
NM_020631.6(PLEKHG5):c.1543-21A>G rs201482043 0.00402
NM_020631.6(PLEKHG5):c.1281+96C>A rs568519107 0.00353
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_020631.6(PLEKHG5):c.592-64G>A rs192811593 0.00305
NM_020631.6(PLEKHG5):c.1080+131G>A rs75624694 0.00296
NM_020631.6(PLEKHG5):c.302+35C>T rs79632236 0.00273
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00236
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221 0.00146
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00142
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.2677G>A (p.Gly893Arg) rs200407689 0.00091
NM_020631.6(PLEKHG5):c.3011+9C>T rs144809602 0.00050
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=) rs199903533 0.00045
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=) rs151184761 0.00030
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080 0.00026
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808 0.00024
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_020631.6(PLEKHG5):c.639G>A (p.Ala213=) rs560366406 0.00018
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=) rs61738905 0.00016
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=) rs375075005 0.00011
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905 0.00010
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=) rs372405586 0.00008
NM_020631.6(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791 0.00006
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00006
NM_020631.6(PLEKHG5):c.984+13C>G rs202154066 0.00006
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338 0.00005
NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.84G>A (p.Pro28=) rs140428005 0.00004
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021 0.00004
NM_020631.6(PLEKHG5):c.210+16G>T rs751082247 0.00003
NM_020631.6(PLEKHG5):c.211-20C>T rs990630026 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.*12C>T rs771326239 0.00002
NM_020631.6(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601 0.00002
NM_020631.6(PLEKHG5):c.2049+9A>G rs368743607 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=) rs775878865 0.00002
NM_020631.6(PLEKHG5):c.1081-12C>T rs182398849 0.00001
NM_020631.6(PLEKHG5):c.1081-19C>T rs1057524719 0.00001
NM_020631.6(PLEKHG5):c.150-11C>A rs369136414 0.00001
NM_020631.6(PLEKHG5):c.150-13C>T rs373087396 0.00001
NM_020631.6(PLEKHG5):c.1517G>A (p.Arg506His) rs898550173 0.00001
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=) rs777894074 0.00001
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861 0.00001
NM_020631.6(PLEKHG5):c.1914C>T (p.Cys638=) rs373154779 0.00001
NM_020631.6(PLEKHG5):c.1933+18C>T rs369940156 0.00001
NM_020631.6(PLEKHG5):c.210+20C>T rs777308688 0.00001
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=) rs1323858843 0.00001
NM_020631.6(PLEKHG5):c.2250-13C>T rs547780813 0.00001
NM_020631.6(PLEKHG5):c.474G>A (p.Glu158=) rs751440606 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=) rs973366523 0.00001
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.6(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.6(PLEKHG5):c.1260C>T (p.Asp420=) rs1553174252
NM_020631.6(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.6(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.6(PLEKHG5):c.2050-17C>A rs1553173486
NM_020631.6(PLEKHG5):c.211-93_211-57del rs1447640740
NM_020631.6(PLEKHG5):c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu) rs1553173380
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu) rs1553173393
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2249+7C>G rs1057523000
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.6(PLEKHG5):c.3011+60C>A rs45463998
NM_020631.6(PLEKHG5):c.302+141C>T rs80277106
NM_020631.6(PLEKHG5):c.440-17G>A rs200894921
NM_020631.6(PLEKHG5):c.440-67G>A rs114755840
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_198681.4(PLEKHG5):c.-88+200G>A rs139450855

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