ClinVar Miner

List of variants studied for holoprosencephaly 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.-3226_301-2327del
NM_000193.4(SHH):c.1093G>A (p.Ala365Thr)
NM_000193.4(SHH):c.1304A>G (p.Tyr435Cys) rs2117124904
NM_000193.4(SHH):c.136C>T (p.Gln46Ter) rs2535910513
NM_000193.4(SHH):c.494C>A (p.Ala165Glu) rs2535901003

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