ClinVar Miner

List of variants reported as likely pathogenic for familial hypoparathyroidism

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 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_002067.5(GNA11):c.161C>T (p.Thr54Met) rs1335558363 0.00001
NC_000003.12:g.(?_122282103)_(122285191_?)del
NM_000315.4(PTH):c.247C>T (p.Arg83Ter) rs6256
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
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.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
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.1661T>C (p.Ile554Thr) rs2074897929
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) rs1576875835
NM_000388.4(CASR):c.1685G>T (p.Cys562Phe)
NM_000388.4(CASR):c.1742C>T (p.Ala581Val)
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.1934C>A (p.Ala645Asp) rs193922430
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
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.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) rs2107650645
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.492+2T>C
NM_000388.4(CASR):c.493-1G>A
NM_000388.4(CASR):c.493-2A>C rs1576857818
NM_000388.4(CASR):c.493-2A>G rs1576857818
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) rs2107632158
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.897G>A (p.Trp299Ter)
NM_002067.5(GNA11):c.446G>A (p.Arg149His)
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_004752.4(GCM2):c.1048C>T (p.Gln350Ter)
NM_004752.4(GCM2):c.1098C>A (p.Cys366Ter)
NM_004752.4(GCM2):c.1100_1103del (p.Arg367fs)
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr) rs2113243235
NM_004752.4(GCM2):c.1216C>T (p.Arg406Ter)
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.199C>G (p.Arg67Gly)
NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)
NM_004752.4(GCM2):c.853del (p.Ser285fs)
NM_004752.4(GCM2):c.90+2T>G

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