ClinVar Miner

List of variants reported as benign for congenital thrombotic thrombocytopenic purpura by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) rs115943536 0.00832
NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=) rs36221217 0.00759
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_139027.6(ADAMTS13):c.*168C>T rs142792179 0.00610
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) rs148849381 0.00018
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004

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