List of variants in gene SHH studied 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
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.301-49G>A	rs1233555	0.48163
NM_000193.4(SHH):c.300+17G>A	rs116412905	0.00504
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	rs104894047	0.00191
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.1102G>T (p.Glu368Ter)	rs753315599
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)	rs780129844
NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)
NM_000193.4(SHH):c.887G>C (p.Gly296Ala)

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