ClinVar Miner

List of variants in gene SHH reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.562+111T>G rs1233554 0.78681
NM_000193.4(SHH):c.301-49G>A rs1233555 0.48163
NM_000193.4(SHH):c.562+324A>G rs9333625 0.23978
NM_000193.4(SHH):c.563-171G>C rs73735499 0.11433
NM_000193.4(SHH):c.562+319G>T rs9333624 0.09026
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000193.4(SHH):c.-255G>A rs9333592 0.05487
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01071
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.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.213G>A (p.Glu71=) rs200317108 0.00026
NM_000193.4(SHH):c.*112GAATAA[3] rs9333636
NM_000193.4(SHH):c.563-202_563-201insGTCTGC rs12720059
NM_000193.4(SHH):c.563-217C>A rs6968409

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