ClinVar Miner

List of variants in gene SHH studied for Failure to thrive; Vomiting; High palate; Anemia; Diarrhea; Axial hypotonia; Macrotia; Moderate global developmental delay; Elevated circulating alanine aminotransferase concentration; Elevated circulating aspartate aminotransferase concentration

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	rs1313527438	0.00001

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