ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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.1083T>C (p.Asp361=) rs150079799 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.2613C>T (p.Gly871=) rs145016043 0.00023
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=) rs142967783 0.00005
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=) rs548886013 0.00001
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1797C>T (p.Thr599=)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627

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