ClinVar Miner

List of variants reported for Non-acquired combined pituitary hormone deficiency with spine abnormalities by Natera, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_178138.6(LHX3):c.108G>A (p.Gln36=) rs33998096 0.01071
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_178138.6(LHX3):c.534C>T (p.Thr178=) rs564712080 0.00018
NM_178138.6(LHX3):c.87G>A (p.Pro29=) rs183980824 0.00006
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr) rs201187873 0.00006
NM_178138.6(LHX3):c.93C>T (p.Cys31=) rs558712702 0.00004
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_178138.6(LHX3):c.80-2A>G rs2131036410

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