ClinVar Miner

List of variants studied for combined pituitary hormone deficiencies, genetic form by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (28):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_033343.4(LHX4):c.690C>T (p.Ser230=) rs111822893 0.00359
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 0.00026
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) rs140016178 0.00011
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_178138.6(LHX3):c.919C>A (p.Arg307=) rs145867977 0.00006
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu) rs374047783 0.00003
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_178138.6(LHX3):c.80-10G>A rs555766551 0.00001
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.456+19G>T rs61735351
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln) rs199799627
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430

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