List of variants in gene SHH reported by GeneReviews

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.630C>T (p.Gly210=)	rs9333634	0.01171
NM_000193.4(SHH):c.570G>A (p.Ser190=)	rs9333633	0.00262
NM_000193.4(SHH):c.885C>T (p.Ser295=)	rs549625672	0.00234
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	rs104894047	0.00191
NM_000193.4(SHH):c.876G>A (p.Gly292=)	rs112055654	0.00093
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	rs104894043	0.00006
NM_000193.4(SHH):c.708C>A (p.Ser236Arg)	rs587778806	0.00003
NM_000193.4(SHH):c.825G>A (p.Ala275=)	rs587778813	0.00003
NM_000193.4(SHH):c.1005G>A (p.Val335=)	rs587778774	0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	rs137853341	0.00001
NM_000193.4(SHH):c.664G>A (p.Asp222Asn)	rs587778805	0.00001
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)	rs397515376
NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)	rs587778786
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.300G>C (p.Gln100His)	rs587778792
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.38_45del (p.Val13fs)	rs587778789
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)	rs146990376
NM_000193.4(SHH):c.562G>C (p.Glu188Gln)	rs587778799
NM_000193.4(SHH):c.585G>A (p.Ser195=)	rs372353493
NM_000193.4(SHH):c.625C>T (p.Gln209Ter)	rs587778803
NM_000193.4(SHH):c.671T>A (p.Val224Glu)	rs104894042
NM_000193.4(SHH):c.6_9dup (p.Leu4fs)	rs587778788
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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