ClinVar Miner

List of variants reported as pathogenic for isolated congenital growth hormone deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_100603501)_(100608996_?)del
NC_000023.10:g.(?_100604853)_(100609705_?)del
NC_000023.10:g.(?_100604873)_(100604964_?)del
NC_000023.10:g.(?_100604873)_(100667593_?)del
NC_000023.10:g.(?_100608162)_(100615763_?)del
NC_000023.10:g.(?_100611020)_(100615763_?)del
NC_000023.10:g.(?_100614261)_(100615763_?)del
NC_000023.10:g.(?_100624966)_(100641212_?)del
NC_000023.10:g.(?_100629415)_(100630272_?)del
NC_000023.11:g.(?_101362153)_(101362709_?)dup
NC_000023.11:g.101353342_101353352del
NC_000023.11:g.101353352dup
NC_000023.11:g.101358697del
NM_000061.3(BTK):c.1085A>G (p.His362Arg) rs2147429797
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter) rs2147429777
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) rs128621197
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) rs1555980875
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) rs1926503277
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter) rs1603005139
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter) rs1603005073
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.1350-1G>A rs1926477495
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter) rs2147427562
NM_000061.3(BTK):c.138dup (p.Gly47fs) rs2147448137
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter) rs2147427505
NM_000061.3(BTK):c.1420dup (p.Thr474fs) rs2147427470
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr) rs1313261352
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro) rs2147427255
NM_000061.3(BTK):c.1537del (p.Glu513fs)
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter) rs1603004481
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1567-12_1567-9del rs1569291244
NM_000061.3(BTK):c.1567-2A>C
NM_000061.3(BTK):c.1567-2A>G rs1555977598
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly) rs886041149
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
NM_000061.3(BTK):c.1631+2T>C rs1926404536
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs) rs2147425053
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) rs1555977474
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) rs1057521814
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs) rs1603002367
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
NM_000061.3(BTK):c.1750+1G>A
NM_000061.3(BTK):c.1750+1G>T
NM_000061.3(BTK):c.1750+5G>A rs864321659
NM_000061.3(BTK):c.1751-1G>A
NM_000061.3(BTK):c.1751-1G>C rs1603001846
NM_000061.3(BTK):c.1751-1G>T
NM_000061.3(BTK):c.1751-2A>G
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) rs1926358858
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1864del (p.Ala622fs)
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
NM_000061.3(BTK):c.1922G>A (p.Arg641His) rs1926220192
NM_000061.3(BTK):c.1926del (p.Thr643fs)
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser) rs2147419969
NM_000061.3(BTK):c.215del (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.232C>T (p.Gln78Ter) rs1603019535
NM_000061.3(BTK):c.241-1G>C rs2147444958
NM_000061.3(BTK):c.270del (p.Glu90fs) rs1603017538
NM_000061.3(BTK):c.274del (p.Ile92fs)
NM_000061.3(BTK):c.278C>A (p.Ser93Ter) rs1569295678
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.309+1G>A
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.32T>C (p.Leu11Pro) rs1603020228
NM_000061.3(BTK):c.334T>C (p.Tyr112His) rs1926977049
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.349A>C (p.Thr117Pro) rs782820524
NM_000061.3(BTK):c.355del (p.Glu119fs)
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.379del (p.Gln127fs)
NM_000061.3(BTK):c.391+1G>A rs2147443380
NM_000061.3(BTK):c.3G>A (p.Met1Ile) rs1927172387
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.43del (p.Gln15fs)
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) rs1926711302
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) rs1926710166
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.496C>T (p.Gln166Ter) rs1926708861
NM_000061.3(BTK):c.513dup (p.Asn172fs)
NM_000061.3(BTK):c.520+1G>A rs2147435832
NM_000061.3(BTK):c.521-1G>A rs1926696248
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.564del (p.Pro190fs) rs1603009890
NM_000061.3(BTK):c.588+1G>A
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.595A>T (p.Lys199Ter) rs2147433246
NM_000061.3(BTK):c.62C>A (p.Ser21Ter) rs2147448284
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.680del (p.Pro227fs) rs1603008449
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.754del (p.Trp252fs)
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.756G>A (p.Trp252Ter) rs1603008349
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.83G>T (p.Arg28Leu) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
NM_000061.3(BTK):c.895-1G>T rs1926563964
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.895-2A>T
NM_000061.3(BTK):c.895-37_928del rs1926563302
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
NM_000061.3(BTK):c.974+1G>A
NM_000061.3(BTK):c.975-1G>T rs2147429973

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