ClinVar Miner

List of variants reported as pathogenic for Holoprosencephaly 3 by Muenke lab, National Institutes of Health

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)	rs886042458
NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)	rs1554493607
NM_000193.4(SHH):c.214C>T (p.Arg72Ter)	rs779093031

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