List of variants in gene CASK reported as uncertain significance for FG syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)	rs1421702106	0.00002
NM_001367721.1(CASK):c.2621G>A (p.Arg874His)	rs754713652	0.00001
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe)	rs777220099	0.00001
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys)	rs2147201432
NM_001367721.1(CASK):c.172+5_172+6delinsAT
NM_001367721.1(CASK):c.2243A>G (p.His748Arg)	rs2064853222
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln)	rs1235769310
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr)	rs1012863843

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