ClinVar Miner

List of variants in gene ADAMTS2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371 0.02621
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014244.5(ADAMTS2):c.640C>T (p.Arg214Trp) rs144732073 0.00006
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.47TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290

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