Variants in gene SHH with conflicting interpretations "pathogenic" and "pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	rs104894047	0.00191
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	rs104894043	0.00006
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	rs137853341	0.00001
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)	rs397515376
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)	rs104894048
NM_000193.4(SHH):c.263A>T (p.Asp88Val)	rs104894050
NM_000193.4(SHH):c.298C>T (p.Gln100Ter)	rs104894044
NM_000193.4(SHH):c.313A>T (p.Lys105Ter)	rs104894045
NM_000193.4(SHH):c.345C>A (p.Asn115Lys)	rs267607047
NM_000193.4(SHH):c.349T>C (p.Trp117Arg)	rs104894040
NM_000193.4(SHH):c.349T>G (p.Trp117Gly)	rs104894040
NM_000193.4(SHH):c.671T>A (p.Val224Glu)	rs104894042
NM_000193.4(SHH):c.766G>T (p.Glu256Ter)	rs104894051
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)	rs397515375
NM_000193.4(SHH):c.850G>T (p.Glu284Ter)	rs104894046
NM_000193.4(SHH):c.91G>A (p.Gly31Arg)	rs28936675

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