ClinVar Miner

List of variants in gene CASR reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr) rs387907392
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1629C>T (p.Ser543=) rs387907399
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_000388.4(CASR):c.2920A>T (p.Thr974Ser) rs387907396
NM_000388.4(CASR):c.2944C>T (p.Pro982Ser) rs387907395
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala) rs387907393
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398

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