ClinVar Miner

List of variants in gene ADAMTS2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr) rs376054177 0.00353
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_014244.5(ADAMTS2):c.-13C>A rs886060499 0.00040
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn) rs138399615 0.00033
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser) rs546990509 0.00021
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037 0.00021
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met) rs148717330 0.00019
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val) rs368221089 0.00014
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857 0.00013
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308 0.00011
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser) rs201864255 0.00011
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln) rs146064587 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185 0.00010
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg) rs374211371 0.00008
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr) rs546681307 0.00006
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met) rs765595538 0.00006
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527 0.00006
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His) rs369215593 0.00006
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125 0.00005
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro) rs371013989 0.00005
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444 0.00005
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975 0.00005
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln) rs148263300 0.00004
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu) rs761256475 0.00004
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341 0.00004
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys) rs751283120 0.00003
NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp) rs545409845 0.00003
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter) rs781618824 0.00003
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716 0.00003
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His) rs1057524562 0.00003
NM_014244.5(ADAMTS2):c.-5C>T rs1480092350 0.00002
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser) rs757782312 0.00002
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val) rs1044141398 0.00002
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys) rs1302357894 0.00002
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe) rs781630569 0.00002
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp) rs769174562 0.00002
NM_014244.5(ADAMTS2):c.1057G>A (p.Asp353Asn) rs1264410712 0.00001
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637 0.00001
NM_014244.5(ADAMTS2):c.142G>C (p.Gly48Arg) rs769371687 0.00001
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser) rs1243941175 0.00001
NM_014244.5(ADAMTS2):c.1567C>T (p.Pro523Ser) rs1198309600 0.00001
NM_014244.5(ADAMTS2):c.1736C>T (p.Thr579Met) rs760943346 0.00001
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys) rs756757077 0.00001
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys) rs752401488 0.00001
NM_014244.5(ADAMTS2):c.1944C>G (p.His648Gln) rs751369419 0.00001
NM_014244.5(ADAMTS2):c.2101G>A (p.Gly701Ser) rs755490840 0.00001
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys) rs1057521585 0.00001
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr) rs199617528 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn) rs1252240288 0.00001
NM_014244.5(ADAMTS2):c.3604A>T (p.Met1202Leu) rs746555448 0.00001
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg) rs769813298 0.00001
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly) rs772175576 0.00001
NM_014244.5(ADAMTS2):c.56T>C (p.Leu19Pro) rs1337756017 0.00001
NM_014244.5(ADAMTS2):c.-12_-2del rs2127463955
NM_014244.5(ADAMTS2):c.-33C>T rs1057523882
NM_014244.5(ADAMTS2):c.11C>A (p.Pro4Gln) rs2127463944
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His) rs768230986
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys) rs779902229
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)
NM_014244.5(ADAMTS2):c.1732G>A (p.Gly578Ser)
NM_014244.5(ADAMTS2):c.1756C>T (p.Arg586Cys)
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys) rs984794583
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly) rs1763091963
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2463C>G (p.Ile821Met) rs2113196166
NM_014244.5(ADAMTS2):c.2522T>C (p.Leu841Pro) rs1403760293
NM_014244.5(ADAMTS2):c.2543T>C (p.Val848Ala) rs1473560758
NM_014244.5(ADAMTS2):c.2636A>T (p.Tyr879Phe)
NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys) rs1554123906
NM_014244.5(ADAMTS2):c.2689G>T (p.Ala897Ser)
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2890_2904del (p.Pro964_Arg968del) rs2113187567
NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)
NM_014244.5(ADAMTS2):c.3178+4A>G rs948167718
NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile) rs368462217
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro) rs141541318
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser) rs2113160848
NM_014244.5(ADAMTS2):c.3614_3617del (p.Lys1205fs) rs1762614292
NM_014244.5(ADAMTS2):c.449C>G (p.Pro150Arg)
NM_014244.5(ADAMTS2):c.691G>A (p.Ala231Thr) rs572648066
NM_014244.5(ADAMTS2):c.70_71insTGCCGC (p.Leu23_Pro24insLeuPro)
NM_014244.5(ADAMTS2):c.76_77insTCCTGC (p.Pro25_Pro26insLeuLeu)
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup) rs770212030

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