ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1311+178T>C rs10819309 0.65849
NM_001114753.3(ENG):c.1686+306A>G rs10987746 0.48619
NM_001114753.3(ENG):c.1742-72T>C rs10760503 0.44299
NM_001114753.3(ENG):c.1687-117G>A rs1330684 0.28944
NM_001114753.3(ENG):c.1742-293C>T rs41429144 0.04815
NM_001114753.3(ENG):c.1686+124G>T rs41512648 0.02763
NM_001114753.3(ENG):c.1741+228G>C rs41417551 0.02631
NM_001114753.3(ENG):c.1312-189A>C rs35938176 0.02325
NM_001114753.3(ENG):c.1311+94A>G rs41335948 0.01761
NM_001114753.3(ENG):c.1686+317A>G rs41316968 0.00985
NM_001114753.3(ENG):c.1742-135G>A rs116246059 0.00980
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001114753.3(ENG):c.1686+312C>T rs146844103 0.00844
NM_001114753.3(ENG):c.1687-157G>C rs5031027 0.00667
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00048
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00044
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00036
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00018
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00008
NM_001114753.3(ENG):c.1135C>G (p.His379Asp) rs771599199 0.00002
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln) rs989537576 0.00001
NM_001114753.3(ENG):c.1331A>G (p.Asn444Ser) rs1454390812 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1687-17C>T rs769004991 0.00001
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter) rs2539064376
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) rs1830434129
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1250_1253dup (p.Met420fs) rs1588576911
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1272+1G>A rs773073663
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-3C>A
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1311+1G>A rs112972846
NM_001114753.3(ENG):c.1312-109dup rs373626892
NM_001114753.3(ENG):c.1312-110_1312-109dup rs373626892
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) rs2131877041
NM_001114753.3(ENG):c.1361T>G (p.Leu454Arg)
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) rs1064793889
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter) rs2539060865
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) rs561818608
NM_001114753.3(ENG):c.1425G>T (p.Val475=) rs1554809328
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1523_1528dup (p.Gly509_Arg510insGlnGly)
NM_001114753.3(ENG):c.1525_1615dup (p.Val539delinsGlyProGlyGlyGlnGlyGlnLeuCysGluProAlaValProLysProArgGlyTer) rs1554809244
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) rs863223541
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.1669A>G (p.Thr557Ala)
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1719dup (p.Ile574fs) rs1554809093

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