ClinVar Miner

List of variants in gene combination LOC126860075, POR reported as likely benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
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.1020C>T (p.Ala340=) rs72557942 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.1029C>T (p.Asp343=) rs201568454 0.00001
NM_001395413.1(POR):c.1057+11C>T rs782029570 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.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.939-6C>A rs782612942 0.00001
NM_001395413.1(POR):c.957C>T (p.His319=) rs112270565 0.00001
NM_001395413.1(POR):c.984T>C (p.Ser328=) rs1554558538 0.00001
NM_001395413.1(POR):c.1000C>T (p.Leu334=) rs1554558547
NM_001395413.1(POR):c.1023C>T (p.Asp341=) rs782658941
NM_001395413.1(POR):c.1032C>G (p.Val344=)
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.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.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.939-20A>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.993C>G (p.Val331=) rs782440366

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