List of variants in gene CASR reported as pathogenic by OMIM

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	rs121909258	0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)	rs200620134	0.00001
NM_000388.4(CASR):c.115C>G (p.Pro39Ala)	rs121909262
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	rs104893716
NM_000388.4(CASR):c.141A>C (p.Lys47Asn)	rs104893702
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	rs104893719
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	rs104893690
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe)	rs104893690
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	rs104893712
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)	rs104893698
NM_000388.4(CASR):c.1846C>G (p.Leu616Val)	rs104893703
NM_000388.4(CASR):c.185G>T (p.Arg62Met)	rs121909265
NM_000388.4(CASR):c.186-1G>T	rs797044441
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	rs104893705
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	rs121909266
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)	rs104893700
NM_000388.4(CASR):c.2043G>T (p.Gln681His)	rs121909261
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)	rs104893718
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)	rs869320729
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)	rs104893699
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)	rs104893711
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	rs104893701
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)	rs104893693
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)	rs104893710
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	rs104893706
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	rs104893704
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	rs1057520791
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)	rs1553769169
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)	rs104893709
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)	rs104893691
NM_000388.4(CASR):c.354C>A (p.Asn118Lys)	rs104893695
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	rs104893708
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	rs121909260
NM_000388.4(CASR):c.382T>C (p.Phe128Leu)	rs104893696
NM_000388.4(CASR):c.38T>C (p.Leu13Pro)	rs104893717
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)	rs121909267
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.539T>G (p.Phe180Cys)	rs121909268
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)	rs104893697
NM_000388.4(CASR):c.662C>A (p.Pro221Gln)	rs397514728
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	rs397514728
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.85A>G (p.Lys29Glu)	rs397514729
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	rs121909259
NM_000388.4:c.2628_2629insAlu

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