ClinVar Miner

List of variants in gene SHH studied for Schizencephaly

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	rs137853341	0.00001
NM_000193.4(SHH):c.44C>A (p.Ser15Ter)
NM_000193.4(SHH):c.593G>A (p.Cys198Tyr)	rs1803267843
NM_000193.4(SHH):c.736G>T (p.Asp246Tyr)

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