ClinVar Miner

List of variants studied for bilateral frontoparietal polymicrogyria by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) rs773498177 0.00001
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter) rs2148657996

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