ClinVar Miner

List of variants in gene ADAMTS2 reported as likely pathogenic

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2085+1G>T rs1763059235 0.00002
NM_014244.5(ADAMTS2):c.688+1G>A rs1182409555 0.00001
NM_014244.5(ADAMTS2):c.688+2T>C rs1453785436 0.00001
NC_000005.9:g.(?_178548652)_(178700075_?)dup
NC_000005.9:g.(?_178554950)_(178564955_?)dup
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs) rs1757906798
NM_014244.5(ADAMTS2):c.102_126dup (p.Ala43fs)
NM_014244.5(ADAMTS2):c.1137T>A (p.Tyr379Ter)
NM_014244.5(ADAMTS2):c.1175del (p.Cys392fs)
NM_014244.5(ADAMTS2):c.1315del (p.Val439fs)
NM_014244.5(ADAMTS2):c.1318C>T (p.Gln440Ter)
NM_014244.5(ADAMTS2):c.1320_1321insTATAAGAGACAGT (p.Ala441fs)
NM_014244.5(ADAMTS2):c.1377C>A (p.Tyr459Ter)
NM_014244.5(ADAMTS2):c.1383-2A>G rs1336175305
NM_014244.5(ADAMTS2):c.153dup (p.His52fs)
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) rs1554125059
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)
NM_014244.5(ADAMTS2):c.1701G>T (p.Trp567Cys) rs2113223246
NM_014244.5(ADAMTS2):c.1822C>T (p.Gln608Ter) rs2113218754
NM_014244.5(ADAMTS2):c.2316del (p.Lys772fs)
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2422del (p.Thr808fs) rs2113200020
NM_014244.5(ADAMTS2):c.2457+1G>A rs2113199896
NM_014244.5(ADAMTS2):c.2458-2A>G rs1762893262
NM_014244.5(ADAMTS2):c.2458-6_2458del rs1057517277
NM_014244.5(ADAMTS2):c.2486C>A (p.Ser829Ter)
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs) rs1554124086
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)
NM_014244.5(ADAMTS2):c.27_28insTCTTATACACATCTGTG (p.Arg10fs)
NM_014244.5(ADAMTS2):c.28_29insAGATGTGTATA (p.Arg10fs)
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) rs1554123627
NM_014244.5(ADAMTS2):c.3179-1del
NM_014244.5(ADAMTS2):c.386_387insATCGT (p.Leu130fs)
NM_014244.5(ADAMTS2):c.422dup (p.Glu142fs)
NM_014244.5(ADAMTS2):c.460_461insAAACTGCAGTGGCCTCT (p.Ser154fs)
NM_014244.5(ADAMTS2):c.46del (p.Leu16fs)
NM_014244.5(ADAMTS2):c.55_56insACTCAGCAGCACGA (p.Leu19fs)
NM_014244.5(ADAMTS2):c.59_63delinsAGCAGCA (p.Leu20fs)
NM_014244.5(ADAMTS2):c.689-9_695del rs2113374735
NM_014244.5(ADAMTS2):c.693del (p.Ser232fs)
NM_014244.5(ADAMTS2):c.891+1G>A
NM_014244.5(ADAMTS2):c.891+2T>C
NM_014244.5(ADAMTS2):c.928del (p.His310fs)
NM_014244.5(ADAMTS2):c.985_986insA (p.Leu329fs)

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