List of variants in gene SKI reported as 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: 40

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.970-166A>G	rs1496555	0.87546
NM_003036.4(SKI):c.1475-60C>T	rs2843159	0.27552
NM_003036.4(SKI):c.1211+180T>C	rs4648631	0.21890
NM_003036.4(SKI):c.969+316C>T	rs3765930	0.20949
NM_003036.4(SKI):c.1211+64C>T	rs2256178	0.20663
NM_003036.4(SKI):c.1475-70G>A	rs2645073	0.19245
NM_003036.4(SKI):c.1095+90G>A	rs2279702	0.13014
NM_003036.4(SKI):c.*33A>T	rs2230008	0.11700
NM_003036.4(SKI):c.1475-76G>A	rs11577387	0.10612
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	rs28384811	0.05253
NM_003036.4(SKI):c.1768-307T>G	rs75635289	0.03451
NM_003036.4(SKI):c.99C>G (p.Gly33=)	rs200019352	0.01364
NM_003036.4(SKI):c.456C>T (p.Arg152=)	rs149898447	0.00976
NM_003036.4(SKI):c.1211+11G>A	rs115186522	0.00934
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.1163C>T (p.Ala388Val)	rs75280988	0.00410
NM_003036.4(SKI):c.1410C>T (p.Pro470=)	rs150985728	0.00322
NM_003036.4(SKI):c.1527C>T (p.Ser509=)	rs111935632	0.00270
NM_003036.4(SKI):c.1338C>T (p.Leu446=)	rs148632347	0.00130
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.1593T>C (p.Pro531=)	rs144279718	0.00065
NM_003036.4(SKI):c.948G>A (p.Lys316=)	rs368128582	0.00032
NM_003036.4(SKI):c.799C>T (p.Leu267=)	rs140178396	0.00016
NM_003036.4(SKI):c.1632C>T (p.His544=)	rs373914574	0.00011
NM_003036.4(SKI):c.897C>T (p.Arg299=)	rs773901705	0.00009
NM_003036.4(SKI):c.1211+10C>T	rs200242660	0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=)	rs375024753	0.00006
NM_003036.4(SKI):c.1212-8C>T	rs370921440	0.00005
NM_003036.4(SKI):c.138C>T (p.Ala46=)	rs745527890	0.00004
NM_003036.4(SKI):c.1767+12G>A	rs772577806	0.00004
NM_003036.4(SKI):c.2013G>A (p.Gln671=)	rs1040803635	0.00002
NM_003036.4(SKI):c.1311C>T (p.Ala437=)	rs140889128
NM_003036.4(SKI):c.1768-211A>G	rs11580302
NM_003036.4(SKI):c.1890C>A (p.Ala630=)	rs773151547
NM_003036.4(SKI):c.1999-153C>G	rs57825631
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)	rs750838146

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