ClinVar Miner

List of variants in gene SKI reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_003036.3(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.3(SKI):c.1164G>A (p.Ala388=) rs780171614
NM_003036.3(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.3(SKI):c.1211+10C>T rs200242660
NM_003036.3(SKI):c.1212-8C>T rs370921440
NM_003036.3(SKI):c.1263C>T (p.Leu421=) rs773045410
NM_003036.3(SKI):c.129G>A (p.Ala43=) rs1313492083
NM_003036.3(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.3(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.3(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.3(SKI):c.1620G>A (p.Ala540=) rs529842293
NM_003036.3(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.3(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.3(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.3(SKI):c.1860C>T (p.Arg620=) rs1002513362
NM_003036.3(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.3(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.3(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.3(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.3(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.3(SKI):c.1999-9C>G rs369496789
NM_003036.3(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.3(SKI):c.2013G>A (p.Gln671=) rs1040803635
NM_003036.3(SKI):c.2052G>T (p.Leu684=) rs1271020892
NM_003036.3(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.3(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.3(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.3(SKI):c.312A>T (p.Val104=) rs368195821
NM_003036.3(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.3(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.3(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.3(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.3(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.3(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.3(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.3(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.3(SKI):c.930A>G (p.Lys310=) rs751629802
NM_003036.3(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.3(SKI):c.975C>T (p.Ser325=) rs753145672

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