ClinVar Miner

List of variants reported as pathogenic for bilateral frontoparietal polymicrogyria by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys) rs556518689 0.00001
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) rs121908463
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462
NM_201525.4(ADGRG1):c.1167+3G>C rs587776623
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) rs1567815105
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu)
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) rs121908466
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_201525.4(ADGRG1):c.621-1G>C rs587776624
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) rs768441855

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