ClinVar Miner

List of variants studied for Glucocorticoid deficiency 2 by Illumina Laboratory Services, Illumina

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001379228.1(MRAP):c.*108A>G rs2833761 0.20754
NM_178817.4(MRAP):c.-130A>G rs114474088 0.01635
NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp) rs79126334 0.01600
NM_001379228.1(MRAP):c.389C>T (p.Thr130Ile) rs114530014 0.01515
NM_001379228.1(MRAP):c.148G>A (p.Val50Met) rs75858661 0.01215
NM_178817.4(MRAP):c.-20G>C rs76147109 0.00867
NM_001379228.1(MRAP):c.132G>T (p.Val44=) rs17855142 0.00790
NM_001379228.1(MRAP):c.390C>G (p.Thr130=) rs17855143 0.00448
NM_001379228.1(MRAP):c.508T>A (p.Leu170Met) rs142897309 0.00083
NM_001379228.1(MRAP):c.219G>A (p.Lys73=) rs201238667 0.00029
NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser) rs200448756 0.00021
NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys) rs376465589 0.00017
NM_001379228.1(MRAP):c.486C>G (p.Pro162=) rs146788457 0.00013
NM_178817.4(MRAP):c.-67C>T rs180872414 0.00011
NM_001379228.1(MRAP):c.106+15G>C rs746170274 0.00005
NM_178817.4(MRAP):c.-91C>T rs565439357 0.00004
NM_001379228.1(MRAP):c.*197T>C rs1001304261 0.00003
NM_178817.4(MRAP):c.-156C>T rs886057001 0.00002
NM_178817.4(MRAP):c.-157G>A rs886057000 0.00002
NM_001379228.1(MRAP):c.*14T>A rs201141721 0.00001
NM_001379228.1(MRAP):c.*181G>A rs1601112595 0.00001
NM_001379228.1(MRAP):c.126C>T (p.Phe42=) rs769898813 0.00001
NM_001379228.1(MRAP):c.107-5C>T rs373512270
NM_001379228.1(MRAP):c.206+13G>C rs749474036
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser) rs773835535

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