List of variants in gene SHH reported as benign for congenital nervous system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.301-49G>A	rs1233555	0.48163
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.300+17G>A	rs116412905	0.00504
NM_000193.4(SHH):c.897G>C (p.Leu299=)	rs9333635	0.00376
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.1078C>T (p.Leu360=)	rs191903572	0.00074
NM_000193.4(SHH):c.562+16C>A	rs552346452	0.00015
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.1164T>C (p.Ala388=)
NM_000193.4(SHH):c.301-18del
NM_000193.4(SHH):c.585G>A (p.Ser195=)	rs372353493
NM_000193.4(SHH):c.780G>A (p.Pro260=)

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