ClinVar Miner

List of variants reported as uncertain significance for bilateral perisylvian polymicrogyria by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) rs113882528 0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) rs113584704 0.00175
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) rs185657767 0.00019
NM_201525.4(ADGRG1):c.620+11C>T rs200892904 0.00004
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) rs1935729656
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)

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