List of variants in gene SHH reported as uncertain significance for microphthalmia, isolated, with coloboma 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	rs751239867	0.00023
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	rs137853341	0.00001
NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)
NM_000193.4(SHH):c.887G>C (p.Gly296Ala)

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