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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	rs193922423	0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	rs767363250	0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.157T>C (p.Ser53Pro)	rs2107625030
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	rs886041154
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	rs121909266
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	rs2107627458
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	rs193922433
NM_000388.4(CASR):c.303C>A (p.Cys101Ter)
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	rs121909264
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	rs2074624616
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	rs28936684

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