ClinVar Miner

List of variants studied for Hennekam syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) rs201009019 0.00045
NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys) rs79726583 0.00015
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) rs200702071 0.00011
NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe) rs376545643 0.00009
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) rs770685560 0.00002
NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr) rs748854090 0.00001
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) rs756973760 0.00001

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