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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	rs193922423	0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	rs886041637	0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	rs1358793834	0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	rs767363250	0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	rs1060502856	0.00001
NC_000003.11:g.(?_121973037)_(122004038_?)del
NC_000003.11:g.(?_121994639)_(122060414_?)del
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)
NM_000388.4(CASR):c.1054del (p.Trp352fs)	rs2107632814
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	rs2107632822
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)	rs2107632860
NM_000388.4(CASR):c.108dup (p.Leu37fs)	rs886041823
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)
NM_000388.4(CASR):c.1114dup (p.Thr372fs)
NM_000388.4(CASR):c.112_113insC (p.Phe38fs)	rs2107624936
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	rs1559959758
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)	rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	rs104893716
NM_000388.4(CASR):c.1507del (p.Ile503fs)
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)	rs2074814252
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs)	rs2107643705
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg)	rs2107648261
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	rs886041154
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	rs1060502847
NM_000388.4(CASR):c.166del (p.Glu56fs)	rs193922424
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	rs104893690
NM_000388.4(CASR):c.1759dup (p.Asp587fs)	rs2107649366
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer)	rs2107649385
NM_000388.4(CASR):c.1783del (p.His595fs)	rs2107649406
NM_000388.4(CASR):c.1802del (p.Lys601fs)	rs2107649423
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	rs104893712
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)
NM_000388.4(CASR):c.1852del (p.Leu618fs)	rs2107649518
NM_000388.4(CASR):c.186-1G>A
NM_000388.4(CASR):c.186-1G>C
NM_000388.4(CASR):c.186-1G>T	rs797044441
NM_000388.4(CASR):c.186-2A>G	rs1350886416
NM_000388.4(CASR):c.1868del (p.Gly623fs)	rs2074923990
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)	rs2074924614
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)
NM_000388.4(CASR):c.1902dup (p.Ile635fs)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	rs104893705
NM_000388.4(CASR):c.1972del (p.Leu658fs)	rs1553768972
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)	rs2074926931
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	rs1559956508
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)	rs2074927550
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)	rs2074927550
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs)	rs2074927630
NM_000388.4(CASR):c.2030del (p.Cys677fs)	rs2107649818
NM_000388.4(CASR):c.2045del (p.Pro682fs)
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	rs2107627458
NM_000388.4(CASR):c.2148dup (p.Lys717fs)	rs2107650029
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
NM_000388.4(CASR):c.2244del (p.Ser749fs)
NM_000388.4(CASR):c.2254del (p.Arg752fs)	rs2107650195
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs)	rs2107650280
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	rs104893701
NM_000388.4(CASR):c.2415del (p.Lys805fs)	rs2107650472
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
NM_000388.4(CASR):c.2518del (p.Ala840fs)
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs)	rs2107650671
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs)
NM_000388.4(CASR):c.2651del (p.Ala884fs)
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)	rs1559969429
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	rs1057520791
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
NM_000388.4(CASR):c.349C>T (p.Gln117Ter)	rs2107627659
NM_000388.4(CASR):c.357_358del (p.Lys119fs)	rs2107627671
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	rs121909260
NM_000388.4(CASR):c.384C>G (p.Phe128Leu)	rs1553766262
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)	rs1559956683
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	rs121909264
NM_000388.4(CASR):c.42_48del (p.Trp15fs)
NM_000388.4(CASR):c.448_449dup (p.Thr151fs)	rs1576854561
NM_000388.4(CASR):c.452C>T (p.Thr151Met)	rs104893694
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)	rs201851934
NM_000388.4(CASR):c.528del (p.Asn176fs)	rs2107631756
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	rs1060502855
NM_000388.4(CASR):c.547_548del (p.Phe183fs)	rs2107631801
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs)	rs193922442
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	rs1064793992
NM_000388.4(CASR):c.621del (p.Trp208fs)
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	rs1482119762
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	rs397514728
NM_000388.4(CASR):c.666del (p.Ile223fs)	rs2107632061
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	rs28936684
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)
NM_000388.4(CASR):c.721del (p.Glu241fs)
NM_000388.4(CASR):c.733C>T (p.Gln245Ter)	rs1553766768
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs)
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	rs121909259
NM_000388.4(CASR):c.924_925dup (p.Gln309fs)	rs2107632553
NM_000388.4(CASR):c.961_962del (p.Ala321fs)	rs2107632620
NM_000388.4(CASR):c.97_98del (p.Ile33fs)
NM_000388.4(CASR):c.994del (p.Glu332fs)
NM_000388.4:c.2643_2644insAlu

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