ClinVar Miner

List of variants in gene PLEKHG2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_022835.3(PLEKHG2):c.2308G>A (p.Ala770Thr) rs111487768 0.00638
NM_022835.3(PLEKHG2):c.2901G>A (p.Pro967=) rs113732286 0.00592
NM_022835.3(PLEKHG2):c.3889G>C (p.Gly1297Arg) rs202077408 0.00309
NM_022835.3(PLEKHG2):c.1386G>A (p.Gly462=) rs149311978 0.00271
NM_022835.3(PLEKHG2):c.4131G>A (p.Gln1377=) rs31729 0.00268
NM_022835.3(PLEKHG2):c.4103A>G (p.Gln1368Arg) rs202010025 0.00217
NM_022835.3(PLEKHG2):c.621G>C (p.Ser207=) rs141195795 0.00175
NM_022835.3(PLEKHG2):c.1104C>T (p.Ser368=) rs146672674 0.00041
NM_022835.3(PLEKHG2):c.472T>C (p.Phe158Leu) rs201038820 0.00038
NM_022835.3(PLEKHG2):c.2531G>C (p.Arg844Pro) rs201914405 0.00036
NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr) rs372208970 0.00022
NM_022835.3(PLEKHG2):c.3009C>T (p.Ala1003=) rs138826809 0.00019
NM_022835.3(PLEKHG2):c.789C>T (p.Arg263=) rs759041640 0.00002
NM_022835.3(PLEKHG2):c.138C>G (p.Pro46=) rs144626871
NM_022835.3(PLEKHG2):c.1401T>G (p.Ala467=)
NM_022835.3(PLEKHG2):c.1446T>C (p.Ser482=)
NM_022835.3(PLEKHG2):c.1707C>T (p.Pro569=) rs145859648
NM_022835.3(PLEKHG2):c.1734C>T (p.Ser578=)
NM_022835.3(PLEKHG2):c.2020A>G (p.Ile674Val)

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