List of variants in gene CASR reported as likely pathogenic by Athena Diagnostics Inc

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	rs751217000	0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	rs193922423	0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His)	rs193922432	0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	rs1060502856	0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	rs769256610	0.00001
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)	rs1576859379
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	rs1576875819
NM_000388.4(CASR):c.1913dup (p.Asn639fs)	rs1576877163
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg)	rs2107649847
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	rs193922433
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter)	rs1576878011
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)	rs757571398
NM_000388.4(CASR):c.518T>C (p.Leu173Pro)	rs2107631736
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)	rs1064794290
NM_000388.4(CASR):c.707G>T (p.Cys236Phe)	rs1057518616
NM_000388.4(CASR):c.823_824del (p.Asp275fs)	rs1553766794

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