ClinVar Miner

List of variants studied for central nervous system malformation by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934

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