ClinVar Miner

Variants in gene ADAMTS2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
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.1629+1008G>A rs139658049 0.00248
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
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.770C>A (p.Ala257Glu) rs370679548 0.00026
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=) rs462009 0.00005
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290

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