ClinVar Miner

List of variants studied for central nervous system malformation by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) rs762455950 0.00005
NM_005559.4(LAMA1):c.5235_5236del (p.Leu1746fs)
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)

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