ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1080+8G>C rs1553174495
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1681-8G>C rs139041955
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1748G>A (p.Arg583Gln) rs1553173791
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.6(PLEKHG5):c.-88+6198G>T rs1472251626
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe)
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815
NM_198681.3(PLEKHG5):c.69C>T (p.Asp23=) rs200424270

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