List of variants in gene SGCA reported as likely pathogenic for not provided

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00014
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.957-11C>G	rs1391089933	0.00001
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)	rs1555568518
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)	rs574376340
NM_000023.4(SGCA):c.577A>T (p.Lys193Ter)	rs1905125726
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	rs757481230
NM_000023.4(SGCA):c.795del (p.Asp266fs)	rs1438874821
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318
NM_001135697.3(SGCA):c.584+521del	rs1220674950

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