ClinVar Miner

List of variants reported as pathogenic for Glucocorticoid deficiency 2 by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) rs80358231 0.00009
NM_001379228.1(MRAP):c.106+1G>C rs566223651 0.00003
NM_001379228.1(MRAP):c.106+1del rs1476574441 0.00001
NM_001379228.1(MRAP):c.106+1G>A rs566223651
NM_001379228.1(MRAP):c.106+1G>T rs566223651
NM_001379228.1(MRAP):c.106+3_106+4insT
NM_001379228.1(MRAP):c.130del (p.Trp43_Val44insTer) rs760615045
NM_001379228.1(MRAP):c.17_23del (p.Asn6fs) rs1569025178

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