ClinVar Miner

List of variants reported as benign for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.937= (p.Ser313=) rs1011320 0.04360
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.00840
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00768
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00686
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00240
NM_005027.4(PIK3R2):c.1416+11C>T rs140187437 0.00133
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_005027.4(PIK3R2):c.1416+15G>A rs202218011 0.00076
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00031
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) rs367971686 0.00031
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) rs762238231 0.00028
NM_005027.4(PIK3R2):c.323-16_323-15del rs374033727 0.00025
NM_005027.4(PIK3R2):c.1011-19A>G rs373122934 0.00015
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) rs200914853 0.00004
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) rs774502328 0.00002
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) rs1239460949 0.00001
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) rs770694944 0.00001
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
NM_005027.4(PIK3R2):c.1110-16C>T
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) rs199931960
NM_005027.4(PIK3R2):c.1416+14C>T
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1809-7A>T rs201271257
NM_005027.4(PIK3R2):c.1809-8dup rs566994275
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) rs1258315228
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) rs80233027
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)

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