ClinVar Miner

List of variants in gene CASR reported as pathogenic by Invitae

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Total variants: 14
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HGVS dbSNP
NM_000388.3(CASR):c.1630C>T (p.Arg544Ter) rs886041637
NM_000388.3(CASR):c.164_165delCGinsTT (p.Pro55Leu) rs1060502847
NM_000388.3(CASR):c.186-1G>T rs797044441
NM_000388.3(CASR):c.1972delC (p.Leu658Cysfs) rs1553768972
NM_000388.3(CASR):c.199delGinsTTCGCT (p.Gly67Phefs)
NM_000388.3(CASR):c.396_410delAGAGCACATTCCCTC (p.Glu133_Ser137del)
NM_000388.3(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.3(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.3(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.3(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.3(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.3(CASR):c.733C>T (p.Gln245Ter) rs1553766768
NM_000388.3(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.3(CASR):c.889G>A (p.Glu297Lys) rs121909259

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