ClinVar Miner

List of variants reported as likely benign for polymicrogyria

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_201525.4(ADGRG1):c.*46G>A rs201611287 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) rs113882528 0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) rs113584704 0.00175
NM_201525.4(ADGRG1):c.*1058C>T rs149861292 0.00164
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_201525.4(ADGRG1):c.*189G>T rs184796447 0.00062
NM_005682.7(ADGRG1):c.-227C>A rs549770392 0.00048
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_201525.4(ADGRG1):c.1287-6G>A rs112805221 0.00014
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=) rs2278808 0.00014
NM_201525.4(ADGRG1):c.801G>C (p.Val267=) rs141056936 0.00006
NM_201525.4(ADGRG1):c.1491C>T (p.Leu497=) rs369114425 0.00005
NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=) rs770806177 0.00003
NM_201525.4(ADGRG1):c.246T>C (p.Pro82=) rs768452683 0.00003
NM_201525.4(ADGRG1):c.1143C>T (p.His381=) rs746825547 0.00001
NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=) rs760911899 0.00001
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972 0.00001
NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=) rs548451753 0.00001
NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=) rs771915499 0.00001
NM_201525.4(ADGRG1):c.553C>T (p.Leu185=) rs138495764 0.00001
NM_201525.4(ADGRG1):c.831G>A (p.Thr277=) rs552642182 0.00001
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_058004.4(PI4KA):c.1062T>C (p.Ser354=)
NM_058004.4(PI4KA):c.1185T>C (p.Phe395=)
NM_058004.4(PI4KA):c.1820+6C>T
NM_058004.4(PI4KA):c.2005-4C>T
NM_058004.4(PI4KA):c.210A>G (p.Leu70=)
NM_058004.4(PI4KA):c.2421C>T (p.Phe807=)
NM_058004.4(PI4KA):c.24AGGCGG[2] (p.Gly15_Gly18del)
NM_058004.4(PI4KA):c.2575-8C>A
NM_058004.4(PI4KA):c.2708+6C>T
NM_058004.4(PI4KA):c.274-3dup
NM_058004.4(PI4KA):c.2856G>A (p.Ala952=)
NM_058004.4(PI4KA):c.2970A>G (p.Leu990=)
NM_058004.4(PI4KA):c.3009C>T (p.Ser1003=)
NM_058004.4(PI4KA):c.3033G>C (p.Leu1011=) rs11552980
NM_058004.4(PI4KA):c.3126G>A (p.Thr1042=)
NM_058004.4(PI4KA):c.3153+8C>T
NM_058004.4(PI4KA):c.3294G>A (p.Thr1098=)
NM_058004.4(PI4KA):c.3372G>A (p.Gln1124=)
NM_058004.4(PI4KA):c.3378C>T (p.Ser1126=)
NM_058004.4(PI4KA):c.351A>G (p.Thr117=)
NM_058004.4(PI4KA):c.405G>A (p.Leu135=)
NM_058004.4(PI4KA):c.4539G>A (p.Pro1513=)
NM_058004.4(PI4KA):c.4773+6G>A
NM_058004.4(PI4KA):c.4995+3A>G
NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=)
NM_058004.4(PI4KA):c.735C>A (p.Val245=)
NM_058004.4(PI4KA):c.786T>C (p.Ser262=)
NM_058004.4(PI4KA):c.789+9G>A
NM_058004.4(PI4KA):c.984G>A (p.Met328Ile)
NM_058004.4(PI4KA):c.9G>C (p.Ala3=)
NM_201525.4(ADGRG1):c.*304C>A rs35572780
NM_201525.4(ADGRG1):c.-35-8595C>T rs151010444
NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=) rs777803292
NM_201525.4(ADGRG1):c.462C>T (p.Ala154=) rs373133040
NM_201525.4(ADGRG1):c.840G>A (p.Arg280=) rs1597552134

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