ClinVar Miner

List of variants in gene ADAMTS2 reported as pathogenic by Invitae

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146 0.00006
NM_014244.5(ADAMTS2):c.2938C>T (p.Arg980Ter) rs1171795845 0.00001
NC_000005.10:g.(?_179272901)_(179273074_?)del
NC_000005.9:g.(?_178634504)_(178634726_?)del
NC_000005.9:g.(?_178699902)_(178772339_?)del
NC_000005.9:g.(?_178770758)_(178772339_?)del
NM_014244.4(ADAMTS2):c.691del rs1764738425
NM_014244.5(ADAMTS2):c.100_130del (p.Pro34fs)
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs) rs1757906798
NM_014244.5(ADAMTS2):c.1034G>A (p.Trp345Ter)
NM_014244.5(ADAMTS2):c.107del (p.Asn36fs)
NM_014244.5(ADAMTS2):c.11del (p.Pro4fs)
NM_014244.5(ADAMTS2):c.1360C>T (p.Gln454Ter)
NM_014244.5(ADAMTS2):c.137del (p.Pro46fs) rs1417947464
NM_014244.5(ADAMTS2):c.1476C>A (p.Cys492Ter)
NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs) rs1763406117
NM_014244.5(ADAMTS2):c.1599dup (p.Asp535fs)
NM_014244.5(ADAMTS2):c.1612_1613del (p.Met538fs)
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)
NM_014244.5(ADAMTS2):c.1803_1827del (p.Gly602fs)
NM_014244.5(ADAMTS2):c.1822C>T (p.Gln608Ter) rs2113218754
NM_014244.5(ADAMTS2):c.1845C>A (p.Cys615Ter)
NM_014244.5(ADAMTS2):c.1903G>T (p.Glu635Ter)
NM_014244.5(ADAMTS2):c.1925_1934del (p.His642fs)
NM_014244.5(ADAMTS2):c.1976_1977delinsAG (p.Cys659Ter)
NM_014244.5(ADAMTS2):c.1977C>A (p.Cys659Ter)
NM_014244.5(ADAMTS2):c.2043del (p.Tyr682fs)
NM_014244.5(ADAMTS2):c.21del (p.Ala8fs) rs2127463933
NM_014244.5(ADAMTS2):c.227C>A (p.Ser76Ter) rs916172129
NM_014244.5(ADAMTS2):c.2372del (p.Met791fs) rs2113200198
NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter) rs1762930637
NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter)
NM_014244.5(ADAMTS2):c.2569G>T (p.Glu857Ter)
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)
NM_014244.5(ADAMTS2):c.2716A>T (p.Arg906Ter) rs2113190301
NM_014244.5(ADAMTS2):c.274del (p.Val92fs) rs2127463432
NM_014244.5(ADAMTS2):c.2768G>A (p.Trp923Ter)
NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs) rs1762828499
NM_014244.5(ADAMTS2):c.3005del (p.Cys1002fs)
NM_014244.5(ADAMTS2):c.3007del (p.Arg1003fs)
NM_014244.5(ADAMTS2):c.3026_3027delinsAA (p.Phe1009Ter)
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter) rs966437723
NM_014244.5(ADAMTS2):c.310dup (p.Glu104fs) rs2127463403
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs) rs1581302068
NM_014244.5(ADAMTS2):c.417G>A (p.Trp139Ter)
NM_014244.5(ADAMTS2):c.431del (p.Gly144fs)
NM_014244.5(ADAMTS2):c.470_480del (p.Tyr157fs)
NM_014244.5(ADAMTS2):c.471C>G (p.Tyr157Ter)
NM_014244.5(ADAMTS2):c.51del (p.Leu18fs)
NM_014244.5(ADAMTS2):c.55del (p.Leu19fs) rs1757915135
NM_014244.5(ADAMTS2):c.591dup (p.Leu198fs) rs2113513390
NM_014244.5(ADAMTS2):c.842dup (p.His282fs) rs1764730959
NM_014244.5(ADAMTS2):c.97_130dup (p.Asp44fs)

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