ClinVar Miner

List of variants in gene ADAMTS2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037 0.00021
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.3076G>A (p.Gly1026Ser) rs148344708 0.00018
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857 0.00012
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met) rs368363548 0.00007
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.2036G>A (p.Arg679His) rs144554943 0.00006
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=) rs142967783 0.00005
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro) rs371013989 0.00005
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu) rs761256475 0.00004
NM_014244.5(ADAMTS2):c.2237C>T (p.Ala746Val) rs780147082 0.00002
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.1736C>T (p.Thr579Met) rs760943346 0.00001
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=) rs548886013 0.00001
NM_014244.5(ADAMTS2):c.2848A>G (p.Thr950Ala) rs778708527 0.00001
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys) rs1762622678 0.00001
NM_014244.5(ADAMTS2):c.998G>A (p.Gly333Glu) rs1380263819 0.00001
GRCh37/hg19 5q35.3(chr5:178566891-178585880)x3
NM_014244.5(ADAMTS2):c.-6G>T
NM_014244.5(ADAMTS2):c.1064G>A (p.Gly355Asp) rs778413387
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1597C>G (p.Pro533Ala)
NM_014244.5(ADAMTS2):c.1797C>T (p.Thr599=)
NM_014244.5(ADAMTS2):c.2807A>G (p.Gln936Arg) rs1581138790
NM_014244.5(ADAMTS2):c.3089-6C>T rs1210414674
NM_014244.5(ADAMTS2):c.3340A>C (p.Asn1114His)
NM_014244.5(ADAMTS2):c.3485A>G (p.Asp1162Gly)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627

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