ClinVar Miner

List of variants in gene CASR reported as pathogenic for Hypocalciuric hypercalcemia, familial, type 1

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Total variants: 21
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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.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe) rs104893690
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.2383C>T (p.Arg795Trp) rs121909258
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.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.38T>C (p.Leu13Pro) rs104893717
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.539T>G (p.Phe180Cys) rs121909268
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) rs397514728
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259

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