List of variants in gene combination CASD1, SGCE reported as uncertain significance 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser)	rs553677309	0.00003
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp)	rs757796461	0.00002
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu)	rs778866625	0.00002
NM_003919.3(SGCE):c.597A>G (p.Ile199Met)	rs777920643	0.00002
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro)	rs1274760811	0.00001
NM_003919.3(SGCE):c.163G>T (p.Gly55Cys)	rs1346358417	0.00001
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)	rs2484945130	0.00001
NM_003919.3(SGCE):c.1064+3_1064+6del	rs1304738505
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg)	rs753092622
NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro)	rs1341048280
NM_003919.3(SGCE):c.1285C>T (p.Gln429Ter)	rs371568101
NM_003919.3(SGCE):c.175_183del (p.Val59_Val61del)
NM_003919.3(SGCE):c.232+3A>G	rs2116971996
NM_003919.3(SGCE):c.274A>G (p.Met92Val)	rs751883227
NM_003919.3(SGCE):c.322C>A (p.Pro108Thr)	rs1017300567
NM_003919.3(SGCE):c.334G>A (p.Gly112Arg)	rs2485168601
NM_003919.3(SGCE):c.392T>C (p.Ile131Thr)	rs1554355443
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg)	rs1803133053
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr)	rs991557646
NM_003919.3(SGCE):c.461A>G (p.Glu154Gly)	rs2116917874
NM_003919.3(SGCE):c.500A>C (p.Lys167Thr)	rs779127500
NM_003919.3(SGCE):c.772T>A (p.Cys258Ser)	rs1799568147
NM_003919.3(SGCE):c.812G>T (p.Cys271Phe)
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser)	rs576417569
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)	rs777023291
NM_003919.3(SGCE):c.920C>A (p.Ser307Tyr)	rs1799085880

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