List of variants in gene CNNM4 reported as pathogenic for Jalili syndrome

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter)	rs80100937	0.00001
NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter)	rs75559353	0.00001
NM_020184.4(CNNM4):c.1034T>A (p.Leu345Ter)
NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)	rs1574047454
NM_020184.4(CNNM4):c.1312del (p.Leu438fs)	rs746879923
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)
NM_020184.4(CNNM4):c.1475G>A (p.Gly492Asp)	rs2153349278
NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu)	rs776159012
NM_020184.4(CNNM4):c.1547-1G>A	rs1558993255
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)	rs1455470131
NM_020184.4(CNNM4):c.1682-1G>C	rs879255500
NM_020184.4(CNNM4):c.1743C>G (p.Tyr581Ter)	rs1432600424
NM_020184.4(CNNM4):c.599C>A (p.Ser200Tyr)	rs79424354
NM_020184.4(CNNM4):c.64_147del (p.Ala22_Met49del)
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln)	rs75267011
NM_020184.4(CNNM4):c.971T>C (p.Leu324Pro)	rs74552543

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