ClinVar Miner

List of variants studied for overnutrition by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02970
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) rs149927060 0.00083
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) rs17848368 0.00007
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter) rs1361929051 0.00001
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) rs2112399256
NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)
NM_003356.4(UCP3):c.126+1G>C
NM_004714.3(DYRK1B):c.1256G>T (p.Arg419Leu)
NM_004714.3(DYRK1B):c.1541G>A (p.Arg514Gln) rs1333583026
NM_021969.3(NR0B2):c.596T>C (p.Leu199Pro)

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