ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Human Genetics Section, Sidra Medicine

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000136.3(FANCC):c.165G>T (p.Met55Ile)
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
NM_001018115.3(FANCD2):c.2404_2405dup (p.Gln802fs)
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
NM_003482.4(KMT2D):c.839G>A (p.Arg280Lys)
NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.355_356del (p.Arg119fs)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
NM_022725.4(FANCF):c.538del (p.Ala180fs)

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