ClinVar Miner

List of variants in gene JUP reported as benign for not specified

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.909+49T>C rs77529236 0.05038
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.469-48C>T rs75715269 0.03700
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.*3G>A rs201552065 0.00011
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194 0.00005
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.1774-16C>T rs371727352 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.909+6C>T rs193922705

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