List of variants in gene CASR reported as pathogenic for not provided

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: 56

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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.848T>C (p.Ile283Thr)	rs142745096	0.00007
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)	rs1064794291	0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	rs886041637	0.00001
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.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	rs121909258	0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	rs2107632822
NM_000388.4(CASR):c.108dup (p.Leu37fs)	rs886041823
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	rs1559959758
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.1659del (p.Ile554fs)
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	rs1576875819
NM_000388.4(CASR):c.1732+1G>T	rs1576875919
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	rs104893712
NM_000388.4(CASR):c.1828G>T (p.Glu610Ter)	rs1057520557
NM_000388.4(CASR):c.1849del (p.Thr617fs)	rs1553768938
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)	rs201852643
NM_000388.4(CASR):c.197G>A (p.Arg66His)	rs1276839362
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.2154delinsCC (p.Trp718fs)	rs1064793353
NM_000388.4(CASR):c.2299G>C (p.Glu767Gln)
NM_000388.4(CASR):c.2364C>G (p.Phe788Leu)	rs886041537
NM_000388.4(CASR):c.2383del (p.Arg795fs)	rs2107650417
NM_000388.4(CASR):c.2611G>T (p.Glu871Ter)	rs1057520646
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)	rs1559969429
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	rs1057520791
NM_000388.4(CASR):c.2901del (p.Phe968fs)	rs2107651486
NM_000388.4(CASR):c.3010del (p.Ser1004fs)	rs1131691620
NM_000388.4(CASR):c.323del (p.Leu108fs)	rs1559956616
NM_000388.4(CASR):c.349C>T (p.Gln117Ter)	rs2107627659
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	rs121909260
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	rs121909263
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	rs121909264
NM_000388.4(CASR):c.452C>T (p.Thr151Met)	rs104893694
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)	rs201851934
NM_000388.4(CASR):c.518T>C (p.Leu173Pro)	rs2107631736
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs)	rs193922442
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	rs1064793992
NM_000388.4(CASR):c.652T>G (p.Tyr218Asp)	rs1057520583
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
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	rs28936684
NM_000388.4(CASR):c.741dup (p.Asp248Ter)
NM_000388.4(CASR):c.903del (p.Ser302fs)	rs2107632517

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