List of variants in gene CASR reported as benign for familial hypocalciuric hypercalcemia 1

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: 17

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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	0.96802
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)	rs1801726	0.91749
NM_000388.4(CASR):c.492+19G>A	rs9869985	0.91296
NM_000388.4(CASR):c.1609-89C>T	rs4678174	0.55250
NM_000388.4(CASR):c.*1198T>C	rs10190	0.54750
NM_000388.4(CASR):c.*1015A>G	rs9740	0.27327
NM_000388.4(CASR):c.*1093C>T	rs1802757	0.17297
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)	rs1801725	0.10682
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	0.01436
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	rs62269092	0.00163
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)	rs117375173	0.00128
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)	rs142704083	0.00061
NM_000388.4(CASR):c.*60A>T	rs4677948
NM_000388.4(CASR):c.78C>G (p.Ala26=)	rs77852524

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