List of variants reported as pathogenic for isolated congenital growth hormone deficiency

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

Total variants: 202

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HGVS	dbSNP	gnomAD frequency
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)	rs121918117	0.00018
NM_000823.4(GHRHR):c.57+1G>A	rs2302022	0.00007
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter)	rs1332137733	0.00004
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	rs121918118	0.00003
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)	rs370930012	0.00003
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	rs587779351	0.00002
NM_000515.5(GH1):c.626G>A (p.Arg209His)	rs137853223	0.00001
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)	rs376948691	0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp)	rs758798716	0.00001
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	rs121918119	0.00001
NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter)	rs918108896	0.00001
GH1, 6.7-KB DEL
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C	rs2128596101
NC_000007.14:g.31008681G>T	rs1562606449
NC_000007.14:g.62535490A>G	rs483352872
NC_000017.11:g.(63914995_63921260)del
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_000059.4(BRCA2):c.9152del (p.Pro3051fs)	rs587779349
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.467del (p.Ser156fs)
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.894+1G>A	rs1064793859
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
NM_000515.5(GH1):c.172-2A>T	rs863223309
NM_000515.5(GH1):c.172G>A (p.Glu58Lys)	rs2144739391
NM_000515.5(GH1):c.173A>C (p.Glu58Ala)	rs2144739380
NM_000515.5(GH1):c.176A>G (p.Glu59Gly)	rs2144739370
NM_000515.5(GH1):c.236G>C (p.Cys79Ser)	rs137853222
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
NM_000515.5(GH1):c.291+1G>A	rs71640277
NM_000515.5(GH1):c.291+1G>C	rs71640277
NM_000515.5(GH1):c.291+28G>A	rs863223306
NM_000515.5(GH1):c.291+29_291+46del	rs2144738731
NM_000515.5(GH1):c.291+2T>C	rs863223310
NM_000515.5(GH1):c.291+5G>A	rs863223307
NM_000515.5(GH1):c.291+6T>C	rs797044450
NM_000515.5(GH1):c.292-37_292-16del
NM_000515.5(GH1):c.307C>T (p.Arg103Cys)	rs137853220
NM_000515.5(GH1):c.413A>G (p.Asp138Gly)	rs137853221
NM_000515.5(GH1):c.456+1G>C	rs797044449
NM_000515.5(GH1):c.456+1G>T	rs797044449
NM_000515.5(GH1):c.456+5G>C	rs863223308
NM_000515.5(GH1):c.52del (p.Leu18fs)
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	rs137853219
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	rs121918120
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)	rs2128598609
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	rs121918121
NM_005121.3(MED13):c.1968-501_2181+590del
NM_005121.3(MED13):c.1968-866_2181+621del
NM_005121.3(MED13):c.1968-867_2181+479del
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs)	rs587779348
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val)	rs2101050974
NM_017619.4(RNPC3):c.1421del (p.Pro474fs)	rs1461692571
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)	rs2101053814
NM_017619.4(RNPC3):c.261dup (p.Leu88fs)	rs2101044148
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala)	rs2101044774
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)	rs939646611

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