ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs) rs1555643185
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104

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