ClinVar Miner

List of variants in gene SHH reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.301-163C>T rs4716913 0.00384
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.*2759G>A rs148863769 0.00175
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074

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