ClinVar Miner

List of variants in gene GAS1 studied for holoprosencephaly 1

Included ClinVar conditions (6):

Holoprosencephaly 1
Holoprosencephaly sequence
Holoprosencephaly sequence; Global developmental delay; Seizure; Proptosis; Microcephaly; Diabetes insipidus; Lumbosacral myelomeningocele
Holoprosencephaly sequence; Heart, malformation of; Severe hydrocephalus; Median cleft lip and palate
Holoprosencephaly sequence; Microcephaly
Holoprosencephaly sequence; Severe hydrocephalus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002048.3(GAS1):c.599C>G (p.Thr200Arg)	rs387907165	0.00001
NM_002048.3(GAS1):c.776G>A (p.Gly259Glu)	rs387907166

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