List of variants in gene SHH reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.-125G>A	rs9333594	0.07860
NM_000193.4(SHH):c.630C>T (p.Gly210=)	rs9333634	0.01171
NM_000193.4(SHH):c.301-131C>T	rs9333618	0.01029
NM_000193.4(SHH):c.300+17G>A	rs116412905	0.00504
NM_000193.4(SHH):c.897G>C (p.Leu299=)	rs9333635	0.00376
NM_000193.4(SHH):c.876G>A (p.Gly292=)	rs112055654	0.00093
NM_000193.4(SHH):c.756C>T (p.Phe252=)	rs113275997	0.00024
NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)	rs866005910

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