ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.-73C>T rs189176513
NM_020631.5(PLEKHG5):c.1023G>A (p.Val341=) rs199903533
NM_020631.5(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.5(PLEKHG5):c.1080+131G>A rs75624694
NM_020631.5(PLEKHG5):c.1081-12C>T rs182398849
NM_020631.5(PLEKHG5):c.1081-19C>T rs1057524719
NM_020631.5(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.5(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1260C>T (p.Asp420=) rs1553174252
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=) rs772435791
NM_020631.5(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601
NM_020631.5(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791
NM_020631.5(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.5(PLEKHG5):c.1392+40G>C rs181693536
NM_020631.5(PLEKHG5):c.150-11C>A rs369136414
NM_020631.5(PLEKHG5):c.150-13C>T rs373087396
NM_020631.5(PLEKHG5):c.1517G>A (p.Arg506His) rs898550173
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861
NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) rs372405586
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221
NM_020631.5(PLEKHG5):c.1914C>T (p.Cys638=) rs373154779
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1933+18C>T rs369940156
NM_020631.5(PLEKHG5):c.2049+9A>G rs368743607
NM_020631.5(PLEKHG5):c.2050-17C>A rs1553173486
NM_020631.5(PLEKHG5):c.210+16G>T rs751082247
NM_020631.5(PLEKHG5):c.210+20C>T rs777308688
NM_020631.5(PLEKHG5):c.211-20C>T rs990630026
NM_020631.5(PLEKHG5):c.2127_2162dup (p.Asp709_Glu720dup) rs1553173380
NM_020631.5(PLEKHG5):c.2142_2153dup (p.Glu720_Glu723dup) rs1553173393
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
NM_020631.5(PLEKHG5):c.2249+7C>G rs1057523000
NM_020631.5(PLEKHG5):c.2250-13C>T rs547780813
NM_020631.5(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338
NM_020631.5(PLEKHG5):c.2424G>A (p.Val808=) rs151184761
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
NM_020631.5(PLEKHG5):c.3012-79C>T rs78137382
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.43+20G>T rs200779049
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-17G>A rs200894921
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.5(PLEKHG5):c.592-75C>A rs140246821
NM_020631.5(PLEKHG5):c.621G>A (p.Ser207=) rs973366523
NM_020631.5(PLEKHG5):c.639G>A (p.Ala213=) rs560366406
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.84G>A (p.Pro28=) rs140428005
NM_020631.5(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.984+13C>G rs202154066
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.5(PLEKHG5):c.99C>T (p.Pro33=) rs775878865
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup) rs113541584
NM_198681.4(PLEKHG5):c.-164-200C>G rs145275535
NM_198681.4(PLEKHG5):c.-164-831T>C rs549207658
NM_198681.4(PLEKHG5):c.-181C>G rs17438786

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