ClinVar Miner

List of variants studied for polymicrogyria by Genome-Nilou Lab

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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.*38T>G rs10852554 0.76824
NM_201525.4(ADGRG1):c.621-184A>C rs8054093 0.67118
NM_201525.4(ADGRG1):c.*74C>A rs10852555 0.49555
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_058004.4(PI4KA):c.2987+38A>G rs2329583 0.48914
NM_201525.4(ADGRG1):c.1167+77C>A rs11866912 0.48895
NM_058004.4(PI4KA):c.4053-15G>C rs3852979 0.48174
NM_058004.4(PI4KA):c.864C>T (p.Cys288=) rs165854 0.46048
NM_058004.4(PI4KA):c.1005+38_1005+40dup rs362114 0.45949
NM_058004.4(PI4KA):c.5117-12C>T rs1807692 0.44967
NM_058004.4(PI4KA):c.5390+38G>A rs2329478 0.40758
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=) rs5996654 0.40633
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=) rs1135929 0.40089
NM_058004.4(PI4KA):c.5676+39C>A rs5996656 0.39972
NM_058004.4(PI4KA):c.5677-37G>A rs5996655 0.39965
NM_058004.4(PI4KA):c.1821-26G>A rs165758 0.39089
NM_058004.4(PI4KA):c.5116+49T>G rs5751800 0.37977
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_058004.4(PI4KA):c.5677-31A>G rs2629351 0.32228
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_201525.4(ADGRG1):c.1665-5C>T rs2290177 0.20927
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=) rs444310 0.20117
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His) rs1801255 0.20047
NM_005682.7(ADGRG1):c.1287-60G>A rs60907901 0.17823
NM_058004.4(PI4KA):c.6174-5C>T rs426917 0.08694
NM_058004.4(PI4KA):c.5391-34A>C rs5760167 0.07286
NM_058004.4(PI4KA):c.2988-12C>T rs5751852 0.06921
NM_058004.4(PI4KA):c.529+29A>G rs73162824 0.03594
NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val) rs199870082 0.00002
NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr) rs139207635 0.00002
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_058004.4(PI4KA):c.2329-14T>A rs73161000
NM_058004.4(PI4KA):c.274-21A>G rs5760899
NM_201525.4(ADGRG1):c.1665-41C>T rs17240890
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257

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