ClinVar Miner

List of variants reported as not provided for Hennekam syndrome

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_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val) rs138817920 0.00004
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254 0.00002
NM_001291303.3(FAT4):c.3135C>T (p.Gly1045=)
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252

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