List of variants in gene CASR reported as pathogenic by Ambry Genetics

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: 11

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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.1630C>T (p.Arg544Ter)	rs886041637	0.00001
NM_000388.4(CASR):c.1385_1388dup (p.His463fs)
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	rs886041154
NM_000388.4(CASR):c.1714G>T (p.Glu572Ter)
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	rs104893712
NM_000388.4(CASR):c.186-1G>T	rs797044441
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	rs104893705
NM_000388.4(CASR):c.384C>A (p.Phe128Leu)	rs1553766262
NM_000388.4(CASR):c.384C>G (p.Phe128Leu)	rs1553766262
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	rs397514728

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