ClinVar Miner

List of variants in gene SKI reported as likely benign for not specified

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
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.-19G>A rs1003998999 0.00007
NM_003036.4(SKI):c.-49G>T rs866291734 0.00007
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031 0.00006
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1767+11C>T rs202132957 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.147G>A (p.Lys49=) rs1043627749 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003036.4(SKI):c.-26_-21dup rs1219383549 0.00001
NM_003036.4(SKI):c.-42G>A rs1057524624 0.00001
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639 0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386 0.00001
NM_003036.4(SKI):c.1938G>A (p.Gln646=) rs757701064 0.00001
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205 0.00001
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334 0.00001
NM_003036.4(SKI):c.970-10T>C rs750601690 0.00001
NM_003036.4(SKI):c.-28G>T rs1057524766
NM_003036.4(SKI):c.1068G>A (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1096-10T>G rs752587204
NM_003036.4(SKI):c.1197C>A (p.Ala399=) rs1057522450
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1474+4C>A rs780930093
NM_003036.4(SKI):c.1608T>C (p.Ser536=) rs1553201055
NM_003036.4(SKI):c.1767+9G>T rs181520853
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1999-16C>T rs1057523169
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.2064G>C (p.Leu688=) rs1057522396
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.687G>A (p.Lys229=) rs750391739
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232

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