ClinVar Miner

List of variants reported as pathogenic for holoprosencephaly 3 by Laboratory of Molecular Genetics, CHU Rennes

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.1015G>T (p.Glu339Ter)
NM_000193.4(SHH):c.1040C>A (p.Pro347Gln)
NM_000193.4(SHH):c.1085C>A (p.Ser362Ter)
NM_000193.4(SHH):c.121_122del (p.Pro41fs)
NM_000193.4(SHH):c.211del (p.Glu71fs)
NM_000193.4(SHH):c.281_282dup (p.Asp95fs)
NM_000193.4(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.4(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.4(SHH):c.388G>T (p.Glu130Ter)
NM_000193.4(SHH):c.404C>G (p.Ser135Ter)
NM_000193.4(SHH):c.423C>A (p.Tyr141Ter) rs763132615
NM_000193.4(SHH):c.469A>T (p.Lys157Ter)
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter) rs146990376
NM_000193.4(SHH):c.57C>A (p.Cys19Ter)
NM_000193.4(SHH):c.587del (p.Gly196fs)
NM_000193.4(SHH):c.72C>A (p.Cys24Ter)
NM_000193.4(SHH):c.730del (p.Arg244fs)
NM_000193.4(SHH):c.87del (p.Phe30fs)

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