ClinVar Miner

List of variants studied for bilateral frontoparietal polymicrogyria by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79529
NM_201525.4(ADGRG1):c.1665-5C>T rs2290177 0.20927
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His) rs1801255 0.20047
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_201525.4(ADGRG1):c.1338C>T (p.Ala446=) rs7198790 0.01696
NM_201525.4(ADGRG1):c.504C>T (p.Ala168=) rs113005540 0.00515
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_201525.4(ADGRG1):c.711G>A (p.Val237=) rs148219127 0.00055
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr) rs147479620 0.00035
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) rs144561715 0.00030
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
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.760C>T (p.Arg254Trp) rs368130981 0.00014
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys) rs371152613 0.00006
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.111G>A (p.Gln37=) rs775331098 0.00003
NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=) rs770806177 0.00003
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg) rs1414923097 0.00003
NM_201525.4(ADGRG1):c.246T>C (p.Pro82=) rs768452683 0.00003
NM_201525.4(ADGRG1):c.304C>T (p.His102Tyr) rs1260128774 0.00003
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_201525.4(ADGRG1):c.1665G>T (p.Met555Ile) rs370457958 0.00002
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His) rs768017345 0.00002
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr) rs781499938 0.00002
NM_201525.4(ADGRG1):c.937T>C (p.Leu313=) rs776724275 0.00002
NM_201525.4(ADGRG1):c.1143C>T (p.His381=) rs746825547 0.00001
NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met) rs1343993863 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.1377G>A (p.Pro459=) rs772599432 0.00001
NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=) rs548451753 0.00001
NM_201525.4(ADGRG1):c.157G>C (p.Asp53His) rs758040938 0.00001
NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=) rs771915499 0.00001
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) rs780718243 0.00001
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) rs587783659 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201525.4(ADGRG1):c.553C>T (p.Leu185=) rs138495764 0.00001
NM_201525.4(ADGRG1):c.621-5G>A rs202245406 0.00001
NM_201525.4(ADGRG1):c.831G>A (p.Thr277=) rs552642182 0.00001
NM_201525.4(ADGRG1):c.1170C>A (p.Val390=) rs1255029602
NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=) rs777803292
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) rs560954695
NM_201525.4(ADGRG1):c.462C>T (p.Ala154=) rs373133040
NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp) rs114515505
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) rs1057517949
NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) rs572021323
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.840G>A (p.Arg280=) rs1597552134
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257

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