ClinVar Miner

List of variants in gene CASR reported as benign for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.97037
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.92120
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.56225
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000388.4(CASR):c.*1015A>G rs9740 0.26851
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01481
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00159
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00066
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00061
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524

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