ClinVar Miner

List of variants reported as benign for congenital isolated adrenocorticotropic hormone deficiency

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005149.3(TBX19):c.728-45G>A rs4656579 0.61272
NM_005149.3(TBX19):c.*21T>A rs3885717 0.43776
NM_005149.3(TBX19):c.*251T>C rs1000533 0.26364
NM_005149.3(TBX19):c.603+11G>T rs12096093 0.14406
NM_005149.3(TBX19):c.*479G>C rs1003315 0.03197
NM_005149.3(TBX19):c.*26C>G rs143627386 0.02303
NM_005149.3(TBX19):c.*1155C>G rs77202012 0.02199
NM_005149.3(TBX19):c.*469G>A rs16860362 0.01991
NM_005149.3(TBX19):c.917-14G>A rs71632355 0.01897
NM_005149.3(TBX19):c.*186G>A rs10918869 0.01378
NM_005149.3(TBX19):c.105C>T (p.Asp35=) rs34284181 0.00937
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_005149.3(TBX19):c.-21G>A rs187423054 0.00201
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_005149.3(TBX19):c.*1234C>T rs149712948 0.00066
NM_005149.3(TBX19):c.*922GAAA[5] rs67726248
NM_005149.3(TBX19):c.603+10_603+11insTTGT rs72294615

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