ClinVar Miner

List of variants studied for Carpenter syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser) rs369528104 0.00001
NM_001271938.2(MEGF8):c.3842G>A (p.Arg1281Gln)
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
NM_001271938.2(MEGF8):c.8140G>A (p.Ala2714Thr)
NM_001271938.2(MEGF8):c.8420G>A (p.Arg2807Gln)

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