ClinVar Miner

List of variants studied for autosomal dominant primary microcephaly by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn) rs1013986586 0.00003
NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe) rs2126727097
NM_005573.4(LMNB1):c.382C>G (p.Leu128Val)
NM_014991.6(WDFY3):c.115C>A (p.Pro39Thr)
NM_032737.4(LMNB2):c.250G>A (p.Val84Met)

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