ClinVar Miner

List of variants in gene SKI reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547

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