List of variants in gene SKIC3 reported as likely pathogenic for immune system disorder

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser)	rs376720108	0.00013
NM_014639.4(SKIC3):c.642+1G>A	rs538894487	0.00008
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter)	rs373796916	0.00002
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp)	rs769075304	0.00001
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NM_014639.4(SKIC3):c.1134+1G>T	rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.1221+1G>C	rs200085753
NM_014639.4(SKIC3):c.1757+1G>A	rs570910902
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.2115-1G>A	rs2112320552
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter)	rs755681347
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
NM_014639.4(SKIC3):c.2578-7_2578-3del	rs746874042
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter)	rs2112308481
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer)	rs752052886
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs)	rs2112260281
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs)	rs1582849807
NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter)	rs2112237964
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs)	rs1582849711
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter)	rs1580193741
NM_014639.4(SKIC3):c.828del (p.Ile276fs)	rs766378178

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