List of variants reported as benign for combined pituitary hormone deficiencies, genetic form by Illumina Laboratory Services, Illumina

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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: 69

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HGVS	dbSNP	gnomAD frequency
NM_006261.5(PROP1):c.109+3G>A	rs4072924	0.54780
NM_005149.3(TBX19):c.*21T>A	rs3885717	0.43776
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)	rs7536561	0.40777
NM_006261.5(PROP1):c.27T>C (p.Ala9=)	rs1135320	0.40746
NM_000061.3(BTK):c.1899C>T (p.Cys633=)	rs1135363	0.37760
NM_000061.3(BTK):c.*116A>C	rs700	0.35507
NM_000306.4(POU1F1):c.*140A>T	rs33936108	0.33253
NM_000061.3(BTK):c.*192G>A	rs1057403	0.32006
NM_006261.5(PROP1):c.-210A>C	rs13187293	0.30465
NM_005149.3(TBX19):c.*251T>C	rs1000533	0.26364
NM_006261.5(PROP1):c.*354G>A	rs4604209	0.24860
NM_178138.6(LHX3):c.79+1975G>A	rs2274116	0.23265
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)	rs1800197	0.22589
NM_005149.3(TBX19):c.603+11G>T	rs12096093	0.14406
NM_000306.4(POU1F1):c.*139T>A	rs4988463	0.14040
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)	rs4988496	0.12048
NM_000823.4(GHRHR):c.598-10T>C	rs35609199	0.10863
NM_033343.4(LHX4):c.778+14G>T	rs3806302	0.09243
NM_006261.5(PROP1):c.*123T>C	rs2233788	0.08086
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)	rs4988498	0.07235
NM_000823.4(GHRHR):c.-45C>T	rs2302021	0.06644
NM_021728.4(OTX2):c.*10G>A	rs171978	0.06420
NM_000823.4(GHRHR):c.*221T>C	rs28371563	0.05985
NM_033343.4(LHX4):c.452-5T>C	rs2764449	0.05703
NM_000823.4(GHRHR):c.366+13T>G	rs4988499	0.04905
NM_000823.4(GHRHR):c.564C>T (p.His188=)	rs740336	0.04789
NM_033343.4(LHX4):c.450C>T (p.Asn150=)	rs16855642	0.04109
NM_005149.3(TBX19):c.*479G>C	rs1003315	0.03197
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)	rs2228078	0.02812
NM_000061.3(BTK):c.*334T>G	rs183674618	0.02721
NM_033343.4(LHX4):c.-120C>T	rs355625	0.02332
NM_005149.3(TBX19):c.*26C>G	rs143627386	0.02303
NM_005149.3(TBX19):c.*1155C>G	rs77202012	0.02199
NM_006261.5(PROP1):c.174G>A (p.Pro58=)	rs2233784	0.02188
NM_006261.5(PROP1):c.*419C>T	rs116225539	0.02154
NM_005149.3(TBX19):c.*469G>A	rs16860362	0.01991
NM_000061.3(BTK):c.954T>C (p.Ser318=)	rs5991926	0.01964
NM_005149.3(TBX19):c.917-14G>A	rs71632355	0.01897
NM_005149.3(TBX19):c.*186G>A	rs10918869	0.01378
NM_033343.4(LHX4):c.*97T>G	rs145063714	0.01162
NM_021728.4(OTX2):c.459C>T (p.Ser153=)	rs34537598	0.00961
NM_005149.3(TBX19):c.105C>T (p.Asp35=)	rs34284181	0.00937
NM_021728.4(OTX2):c.97+12C>T	rs28757218	0.00889
NM_033343.4(LHX4):c.*286G>C	rs80203153	0.00865
NM_033343.4(LHX4):c.384C>T (p.Asp128=)	rs141139762	0.00712
NM_033343.4(LHX4):c.*130C>T	rs59623342	0.00680
NM_000306.4(POU1F1):c.666-5G>A	rs76296626	0.00674
NM_033343.4(LHX4):c.*445G>T	rs57069480	0.00607
NM_005149.3(TBX19):c.1122C>T (p.His374=)	rs34885709	0.00575
NM_005149.3(TBX19):c.*544G>A	rs144304383	0.00566
NM_005149.3(TBX19):c.761T>C (p.Val254Ala)	rs77425733	0.00523
NM_178138.6(LHX3):c.*825C>A	rs3739470	0.00510
NM_033343.4(LHX4):c.63T>C (p.Gly21=)	rs75857235	0.00465
NM_000061.3(BTK):c.*221G>T	rs1122765	0.00340
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile)	rs28371560	0.00225
NM_178138.6(LHX3):c.*185T>A	rs144976921	0.00202
NM_005149.3(TBX19):c.-21G>A	rs187423054	0.00201
NM_033343.4(LHX4):c.*119T>C	rs180725260	0.00142
NM_005149.3(TBX19):c.*1234C>T	rs149712948	0.00066
NM_021728.4(OTX2):c.*779G>A	rs138197536	0.00041
NM_021728.4(OTX2):c.*966A>G	rs57390094	0.00006
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)	rs145433128	0.00006
NM_033343.4(LHX4):c.1160A>C (p.His387Pro)	rs200187045	0.00001
NM_000306.4(POU1F1):c.*138T>A	rs190287993
NM_000306.4(POU1F1):c.*213=	rs6792500
NM_005149.3(TBX19):c.*922GAAA[5]	rs67726248
NM_005149.3(TBX19):c.603+10_603+11insTTGT	rs72294615
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)	rs2233783
NM_033343.4(LHX4):c.*17C>A	rs116482990

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