ClinVar Miner

List of variants studied for overnutrition by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_003466.4(PAX8):c.1011del (p.Val339fs) rs1558700308

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