List of variants reported as likely pathogenic for autosomal dominant hypocalcemia 1 by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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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.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His)	rs193922432	0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	rs121909258	0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	rs769256610	0.00001
NC_000003.12:g.(?_122282103)_(122285191_?)del
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	rs1057517712
NM_000388.4(CASR):c.1377+1G>A
NM_000388.4(CASR):c.1377+1G>T	rs2074639464
NM_000388.4(CASR):c.1378-1G>C	rs2074810403
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	rs193922423
NM_000388.4(CASR):c.1608+1G>A
NM_000388.4(CASR):c.1608+2T>C
NM_000388.4(CASR):c.1609-2A>G	rs761084315
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	rs1060502861
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	rs1576875819
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	rs1576875835
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	rs2074920676
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
NM_000388.4(CASR):c.185+1G>A
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	rs121909266
NM_000388.4(CASR):c.197G>A (p.Arg66His)	rs1276839362
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)	rs1553769052
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)	rs2074935748
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	rs104893704
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	rs121909263
NM_000388.4(CASR):c.492+2T>C
NM_000388.4(CASR):c.493-2A>C	rs1576857818
NM_000388.4(CASR):c.493-2A>G	rs1576857818
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	rs1202110240

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