List of variants in gene CASR reported as 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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	rs1358793834	0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	rs767363250	0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	rs121909258	0.00001
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)	rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	rs104893716
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	rs886041154
NM_000388.4(CASR):c.1732+1G>T	rs1576875919
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	rs104893712
NM_000388.4(CASR):c.1849del (p.Thr617fs)	rs1553768938
NM_000388.4(CASR):c.2097del (p.Asn700fs)	rs1576877427
NM_000388.4(CASR):c.2101del (p.Arg701fs)	rs1553769004
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)	rs2074932551
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	rs1057520791
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs)	rs193922442
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	rs28936684

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