ClinVar Miner

List of variants studied for Hennekam syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) rs191999971 0.00058
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) rs200772179 0.00038
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) rs141773516 0.00033
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001291303.3(FAT4):c.7264A>T (p.Ser2422Cys) rs139924242 0.00011
NM_001291303.3(FAT4):c.821C>T (p.Ala274Val) rs199605036 0.00009
NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met) rs773912269 0.00006
NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr) rs769490380 0.00001
NM_001291303.3(FAT4):c.10483A>G (p.Ser3495Gly)
NM_001291303.3(FAT4):c.11074C>T (p.His3692Tyr)
NM_001291303.3(FAT4):c.14120C>A (p.Pro4707His)
NM_001291303.3(FAT4):c.14468G>A (p.Arg4823Lys)
NM_001291303.3(FAT4):c.14945_14946del (p.Tyr4982fs)
NM_001291303.3(FAT4):c.2102A>G (p.Asn701Ser)
NM_001291303.3(FAT4):c.3808A>C (p.Ile1270Leu)
NM_001291303.3(FAT4):c.5914G>A (p.Asp1972Asn)
NM_001291303.3(FAT4):c.9203A>G (p.Asn3068Ser)
NM_001291303.3(FAT4):c.9964G>A (p.Val3322Met)

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