ClinVar Miner

List of variants in gene CDC73 reported as pathogenic for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) rs771907995 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
CDC73, 41-BP DUP/INS
NC_000001.10:g.(?_193091331)_(193121594_?)del
NC_000001.10:g.(?_193094232)_(193094357_?)del
NC_000001.10:g.(?_193094317)_(193111354_?)del
NC_000001.10:g.(?_193099298)_(193099379_?)del
NC_000001.10:g.(?_193104511)_(193104729_?)del
NC_000001.10:g.(?_193172915)_(193172992_?)del
NC_000001.10:g.(?_193181185)_(193181617_?)del
NC_000001.10:g.(?_193181185)_(193219842_?)del
NC_000001.10:g.(?_193202113)_(193205496_?)del
NC_000001.11:g.(?_193122191)_(193122341_?)del
NC_000001.11:g.(?_193122191)_(193125227_?)del
NC_000001.11:g.(?_193122191)_(193150392_?)del
NC_000001.11:g.(?_193122191)_(193152454_?)del
NC_000001.11:g.(?_193122201)_(193125227_?)del
NC_000001.11:g.(?_193125102)_(193130253_?)del
NC_000001.11:g.(?_193130174)_(193130243_?)del
NC_000001.11:g.(?_193135381)_(193138183_?)del
NC_000001.11:g.(?_193236246)_(193236366_?)del
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs) rs1677132309
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
NM_024529.5(CDC73):c.10del (p.Val4fs) rs2103111548
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
NM_024529.5(CDC73):c.1247del (p.Gly416fs) rs1572215344
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1G>T rs587776558
NM_024529.5(CDC73):c.131+1del
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
NM_024529.5(CDC73):c.1397del (p.Pro466fs) rs2102061886
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.1405dup (p.Ile469fs) rs1677757559
NM_024529.5(CDC73):c.1417dup (p.Ile473fs) rs2102061912
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter) rs1675541893
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.17del (p.Ser6fs)
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.1A>G (p.Met1Val) rs1558276054
NM_024529.5(CDC73):c.201del (p.His68fs) rs2103114004
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.237+1G>C rs794727303
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
NM_024529.5(CDC73):c.2dup (p.Met1fs)
NM_024529.5(CDC73):c.331del (p.Ser111fs) rs2103121472
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) rs2103121496
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) rs2103121703
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
NM_024529.5(CDC73):c.455_456del (p.Arg152fs) rs1060500019
NM_024529.5(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter) rs2103123807
NM_024529.5(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.5(CDC73):c.501_502del (p.Glu168fs) rs2103123824
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
NM_024529.5(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) rs2103126265
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) rs1675465013
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
NM_024529.5(CDC73):c.718del (p.Ser240fs) rs1572154885
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.7dup (p.Asp3fs) rs1675462891
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) rs1131691698
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024529.5(CDC73):c.877dup (p.Tyr293fs) rs2103132218
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter) rs2103132220
NM_024529.5(CDC73):c.893del (p.Phe298fs) rs2103132250
NM_024529.5(CDC73):c.96del (p.Trp32fs)
NM_024529.5(CDC73):c.99del (p.Lys34fs)

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