ClinVar Miner

List of variants reported as uncertain significance for bilateral frontoparietal polymicrogyria by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_201525.4(ADGRG1):c.-11G>A rs112775979 0.00013
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) rs145001300 0.00004
NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile) rs587783649 0.00003
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) rs587783651 0.00001
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) rs587783659 0.00001
NM_201525.4(ADGRG1):c.64+15G>T rs200303272 0.00001
NM_201525.4(ADGRG1):c.1063+9G>C rs587783650
NM_201525.4(ADGRG1):c.900G>C (p.Gln300His) rs587783661

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