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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1998+63T>C	rs186951424	0.00910
NM_003036.4(SKI):c.1096-39T>C	rs190301434	0.00779
NM_003036.4(SKI):c.1767+37C>T	rs114330959	0.00758
NM_003036.4(SKI):c.969+323C>T	rs144963770	0.00724
NM_003036.4(SKI):c.1211+173C>T	rs150347326	0.00708
NM_003036.4(SKI):c.1999-43A>G	rs371963326	0.00651
NM_003036.4(SKI):c.*39G>A	rs191800649	0.00569
NM_003036.4(SKI):c.1999-70G>T	rs550656878	0.00390
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.1851G>A (p.Glu617=)	rs146789646	0.00091
NM_003036.4(SKI):c.1308C>T (p.Ala436=)	rs139034124	0.00064
NM_003036.4(SKI):c.1734C>T (p.Ser578=)	rs117443908	0.00046
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)	rs150934009	0.00035
NM_003036.4(SKI):c.516C>T (p.Pro172=)	rs182513685	0.00032
NM_003036.4(SKI):c.312A>T (p.Val104=)	rs368195821	0.00029
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)	rs199797772	0.00026
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)	rs372950890	0.00023
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.640A>G (p.Ser214Gly)	rs139179843	0.00013
NM_003036.4(SKI):c.105G>A (p.Pro35=)	rs778180778	0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)	rs544709718	0.00011
NM_003036.4(SKI):c.1164G>A (p.Ala388=)	rs780171614	0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=)	rs375600617	0.00009
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.1587G>A (p.Ala529=)	rs542301067	0.00007
NM_003036.4(SKI):c.*17C>T	rs746845280	0.00006
NM_003036.4(SKI):c.567G>C (p.Leu189=)	rs752411031	0.00006
NM_003036.4(SKI):c.1096-5G>A	rs566936949	0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=)	rs773045410	0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=)	rs538703800	0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val)	rs374264201	0.00005
NM_003036.4(SKI):c.1041C>T (p.Ser347=)	rs140745811	0.00004
NM_003036.4(SKI):c.1096-6C>T	rs201304370	0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)	rs771862077	0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=)	rs748272908	0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=)	rs139227600	0.00004
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.1866G>A (p.Glu622=)	rs748886393	0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=)	rs751933078	0.00003
NM_003036.4(SKI):c.2154G>T (p.Ala718=)	rs778456446	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.1211+17C>T	rs753878221	0.00002
NM_003036.4(SKI):c.147G>A (p.Lys49=)	rs1043627749	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.1032C>T (p.Pro344=)	rs766656095	0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=)	rs998931386	0.00001
NM_003036.4(SKI):c.1212-21G>C	rs552065460	0.00001
NM_003036.4(SKI):c.1485C>T (p.Ser495=)	rs964817956	0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=)	rs975738197	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.1999-11C>T	rs1022360604	0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=)	rs1171554207	0.00001
NM_003036.4(SKI):c.324G>A (p.Glu108=)	rs201144990	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.906C>T (p.Arg302=)	rs772758586	0.00001
NM_003036.4(SKI):c.970-10T>C	rs750601690	0.00001
NM_003036.4(SKI):c.17_36del	rs1356960548
NM_003036.4(SKI):c.*4C>T	rs1330809659
NM_003036.4(SKI):c.-11C>G	rs1246353625
NM_003036.4(SKI):c.-28G>T	rs1057524766
NM_003036.4(SKI):c.-46C>T	rs1569656260
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)	rs377336741
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.1198C>T (p.Leu400Phe)	rs1206358847
NM_003036.4(SKI):c.1212-6C>T	rs752765206
NM_003036.4(SKI):c.1311C>G (p.Ala437=)	rs140889128
NM_003036.4(SKI):c.1425G>A (p.Glu475=)	rs766659705
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.1827G>A (p.Lys609=)	rs1324710541
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.191_196dup (p.Val64_Pro65dup)	rs1553189874
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.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
NM_003036.4(SKI):c.969+53C>T	rs186753945

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