ClinVar Miner

List of variants in gene LOC126860075, POR studied for adrenocortical insufficiency

Included ClinVar conditions (20):
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.822-35C>T rs41301394 0.25679
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) rs11540674 0.00044
NM_001395413.1(POR):c.898C>T (p.Leu300Phe) rs201649877 0.00038
NM_001395413.1(POR):c.991G>A (p.Val331Ile) rs562241770 0.00031
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001395413.1(POR):c.841C>A (p.Pro281Thr) rs72557937 0.00016
NM_001395413.1(POR):c.822-18T>G rs377191310 0.00012
NM_001395413.1(POR):c.1032C>T (p.Val344=) rs369776567 0.00007
NM_001395413.1(POR):c.913T>C (p.Leu305=) rs368069177 0.00006
NM_001395413.1(POR):c.843G>A (p.Pro281=) rs376293105 0.00005
NM_001395413.1(POR):c.888C>T (p.Thr296=) rs180683888 0.00005
NM_001395413.1(POR):c.892C>T (p.Arg298Cys) rs200097755 0.00005
NM_001395413.1(POR):c.1020C>T (p.Ala340=) rs72557942 0.00004
NM_001395413.1(POR):c.842C>T (p.Pro281Leu) rs72557938 0.00004
NM_001395413.1(POR):c.861C>T (p.Thr287=) rs782249427 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_001395413.1(POR):c.990C>T (p.Leu330=) rs376830846 0.00004
NM_001395413.1(POR):c.1057+20C>T rs782720450 0.00003
NM_001395413.1(POR):c.924G>A (p.Ser308=) rs782746771 0.00003
NM_001395413.1(POR):c.1033G>A (p.Val345Ile) rs373128937 0.00002
NM_001395413.1(POR):c.1033del (p.Val345fs) rs1563433095 0.00002
NM_001395413.1(POR):c.1044G>A (p.Leu348=) rs782369494 0.00002
NM_001395413.1(POR):c.1029C>T (p.Asp343=) rs201568454 0.00001
NM_001395413.1(POR):c.1044del (p.Asn349fs) rs782024141 0.00001
NM_001395413.1(POR):c.1057+11C>T rs782029570 0.00001
NM_001395413.1(POR):c.1057+3G>A rs1247013812 0.00001
NM_001395413.1(POR):c.822-5C>T rs782792938 0.00001
NM_001395413.1(POR):c.825C>T (p.Pro275=) rs782052242 0.00001
NM_001395413.1(POR):c.855A>G (p.Ala285=) rs2228103 0.00001
NM_001395413.1(POR):c.874C>T (p.Leu292=) rs1312446116 0.00001
NM_001395413.1(POR):c.893G>A (p.Arg298His) rs782125318 0.00001
NM_001395413.1(POR):c.930C>T (p.Ser310=) rs577293751 0.00001
NM_001395413.1(POR):c.936C>T (p.Ile312=) rs782685425 0.00001
NM_001395413.1(POR):c.938+16G>A rs782281971 0.00001
NM_001395413.1(POR):c.938+18C>T rs782402452 0.00001
NM_001395413.1(POR):c.938+3A>G rs782232516 0.00001
NM_001395413.1(POR):c.938G>C (p.Arg313Thr) rs782572970 0.00001
NM_001395413.1(POR):c.939-6C>A rs782612942 0.00001
NM_001395413.1(POR):c.957C>T (p.His319=) rs112270565 0.00001
NM_001395413.1(POR):c.967T>C (p.Tyr323His) rs782419727 0.00001
NM_001395413.1(POR):c.984T>C (p.Ser328=) rs1554558538 0.00001
NM_001395413.1(POR):c.985G>A (p.Ala329Thr) rs1469610345 0.00001
NM_001395413.1(POR):c.1000C>T (p.Leu334=) rs1554558547
NM_001395413.1(POR):c.1020del (p.Asp341fs) rs782425291
NM_001395413.1(POR):c.1023C>T (p.Asp341=) rs782658941
NM_001395413.1(POR):c.1032C>G (p.Val344=)
NM_001395413.1(POR):c.1048A>C (p.Asn350His) rs1789229404
NM_001395413.1(POR):c.1051C>T (p.Leu351=) rs1554558565
NM_001395413.1(POR):c.1053G>A (p.Leu351=) rs1554558566
NM_001395413.1(POR):c.1057+11C>G rs782029570
NM_001395413.1(POR):c.1057+11_1057+12del rs782141727
NM_001395413.1(POR):c.1057+12A>C rs2535395723
NM_001395413.1(POR):c.1057+17G>A rs782143653
NM_001395413.1(POR):c.1057+18G>A rs2535395767
NM_001395413.1(POR):c.1057+8C>T
NM_001395413.1(POR):c.822-11T>C rs2535392836
NM_001395413.1(POR):c.822-11_822-9del rs782696938
NM_001395413.1(POR):c.822-4C>G rs2535392889
NM_001395413.1(POR):c.822-7C>T
NM_001395413.1(POR):c.828del (p.Phe276fs) rs2535392949
NM_001395413.1(POR):c.829G>A (p.Asp277Asn)
NM_001395413.1(POR):c.834C>T (p.Ala278=) rs1789193812
NM_001395413.1(POR):c.837G>A (p.Lys279=) rs2535393058
NM_001395413.1(POR):c.858C>A (p.Val286=) rs1554558453
NM_001395413.1(POR):c.880C>T (p.Gln294Ter)
NM_001395413.1(POR):c.891G>C (p.Glu297Asp) rs2116612743
NM_001395413.1(POR):c.924G>C (p.Ser308=) rs782746771
NM_001395413.1(POR):c.938+13A>G rs2535393846
NM_001395413.1(POR):c.938+22_938+24dup rs1357516887
NM_001395413.1(POR):c.938+23_938+24del rs1357516887
NM_001395413.1(POR):c.938+7G>A rs72557939
NM_001395413.1(POR):c.939-14A>C rs886062441
NM_001395413.1(POR):c.939-20A>G rs952447160
NM_001395413.1(POR):c.939-21_939-17del rs2535394363
NM_001395413.1(POR):c.939-6C>T rs782612942
NM_001395413.1(POR):c.939-7C>T
NM_001395413.1(POR):c.955C>T (p.His319Tyr) rs1163437835
NM_001395413.1(POR):c.955dup (p.His319fs) rs2535394735
NM_001395413.1(POR):c.981_988dup (p.Leu330fs) rs2535395073
NM_001395413.1(POR):c.993C>G (p.Val331=) rs782440366

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