ClinVar Miner

List of variants reported as pathogenic for holoprosencephaly 1 by Muenke lab, National Institutes of Health

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.880G>A (p.Glu294Lys)	rs528376963	0.00003
NM_033163.5(FGF8):c.559_573del (p.Arg187_Gly191del)	rs1554834321

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