List of variants in gene SKI reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)	rs376736872	0.00006
NM_003036.4(SKI):c.1212-8C>T	rs370921440	0.00005
NM_003036.4(SKI):c.1124G>A (p.Arg375His)	rs762209697	0.00003
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)	rs749507746	0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)	rs776248526	0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met)	rs770481744	0.00001
NM_003036.4(SKI):c.1025A>G (p.Gln342Arg)	rs377336741
NM_003036.4(SKI):c.1096-7T>G	rs2100916839
NM_003036.4(SKI):c.1148C>T (p.Ser383Phe)
NM_003036.4(SKI):c.137C>G (p.Ala46Gly)	rs1210974703
NM_003036.4(SKI):c.1687C>T (p.Leu563=)	rs868545143
NM_003036.4(SKI):c.173C>T (p.Ala58Val)	rs1638564960
NM_003036.4(SKI):c.1994C>T (p.Ala665Val)	rs1557854261
NM_003036.4(SKI):c.2057C>T (p.Ala686Val)	rs1216955747
NM_003036.4(SKI):c.2185_*15del (p.Ter729del)
NM_003036.4(SKI):c.259C>T (p.Pro87Ser)
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
NM_003036.4(SKI):c.851A>G (p.Tyr284Cys)	rs2100791019

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