ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119

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