List of variants reported as likely pathogenic for Familial hypocalciuric hypercalcemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	rs751217000	0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	rs1060502856	0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)	rs193922439	0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	rs769256610	0.00001
NM_000388.4(CASR):c.974G>A (p.Gly325Glu)	rs193922444	0.00001
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)	rs193922419
NM_000388.4(CASR):c.108del (p.Leu37fs)	rs886041823
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)	rs193922421
NM_000388.4(CASR):c.1377+2T>A	rs78925326
NM_000388.4(CASR):c.1378-1G>C	rs2074810403
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	rs193922422
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	rs1576875819
NM_000388.4(CASR):c.166del (p.Glu56fs)	rs193922424
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs)
NM_000388.4(CASR):c.1676C>A (p.Pro559His)	rs193922425
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)	rs193922426
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)	rs193922427
NM_000388.4(CASR):c.1884del (p.Phe629fs)	rs193922429
NM_000388.4(CASR):c.1A>G (p.Met1Val)	rs2107624704
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)	rs193922431
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter)
NM_000388.4(CASR):c.2065G>A (p.Val689Met)	rs2107649885
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)	rs193922433
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)	rs193922435
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)	rs193922437
NM_000388.4(CASR):c.2686del (p.Arg896fs)	rs193922438
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.380A>G (p.Glu127Gly)	rs121909260
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	rs1060502855
NM_000388.4(CASR):c.554del (p.Arg185fs)	rs193922442
NM_000388.4(CASR):c.643G>C (p.Asp215His)	rs1553731681
NM_000388.4(CASR):c.666del (p.Ile223fs)	rs2107632061
NM_000388.4(CASR):c.91dup (p.Asp31fs)	rs2107624870

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