List of variants studied for combined pituitary hormone deficiencies, genetic form by 3billion

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)	rs121918117	0.00018
NM_006261.5(PROP1):c.150del (p.Arg53fs)	rs587776683	0.00006
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)	rs1927168815
NM_000061.3(BTK):c.867T>A (p.Ser289Arg)	rs1926588297
NM_000061.3(BTK):c.894+1G>A	rs1064793859
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)	rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000515.5(GH1):c.291+1G>A	rs71640277
NM_000515.5(GH1):c.291+1G>C	rs71640277
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)	rs745685399
NM_005149.3(TBX19):c.665+1G>T	rs1649150256
NM_006261.5(PROP1):c.343-1G>A	rs2480285098
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)	rs140016178
NM_017619.4(RNPC3):c.1328A>G (p.Tyr443Cys)
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)	rs121912643
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys)	rs2149266749
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)	rs2490915299
NM_178138.6(LHX3):c.79+1813G>C	rs886063706

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