ClinVar Miner

List of variants in gene combination INSL6, JAK2 reported as benign by GeneDx

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.936+131C>T rs1536799 0.95758
NM_004972.4(JAK2):c.469-317G>C rs1028912 0.61951
NM_004972.4(JAK2):c.2490G>A (p.Leu830=) rs2230724 0.61784
NM_004972.4(JAK2):c.2571+245G>T rs2149560 0.60891
NM_004972.4(JAK2):c.1514-88G>A rs7869668 0.60454
NM_004972.4(JAK2):c.3060-72A>G rs10815163 0.37602
NM_004972.4(JAK2):c.489C>T (p.His163=) rs2230722 0.35323
NM_004972.4(JAK2):c.1642-310C>T rs12335546 0.33759
NM_004972.4(JAK2):c.2886+71G>A rs10974955 0.27222
NM_004972.4(JAK2):c.2435-140A>G rs7034539 0.26777
NM_004972.4(JAK2):c.3059+23A>T rs2274649 0.23824
NM_004972.4(JAK2):c.1776+220G>A rs10974947 0.23556
NM_004972.4(JAK2):c.1993-189T>C rs1159782 0.23151
NM_004972.4(JAK2):c.1056+249A>G rs10974938 0.23113
NM_004972.4(JAK2):c.1776+172T>C rs4495487 0.23038
NM_004972.4(JAK2):c.937-235C>T rs1536800 0.20299
NM_004972.4(JAK2):c.350+174T>C rs74715056 0.09684
NM_004972.4(JAK2):c.614+79C>T rs7872649 0.08903
NM_004972.4(JAK2):c.1215-223T>C rs74522569 0.08575
NM_004972.4(JAK2):c.1993-260G>C rs12005893 0.08424
NM_004972.4(JAK2):c.3291+96T>G rs12005968 0.07116
NM_004972.4(JAK2):c.1929T>C (p.Asn643=) rs2230728 0.04153
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00488
NM_004972.4(JAK2):c.-25-225G>A rs10974919
NM_004972.4(JAK2):c.1327-267T>G rs3780367
NM_004972.4(JAK2):c.2434+227_2434+230del rs33925764

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