ClinVar Miner

List of variants in gene ADAMTS13 studied for not specified

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Gene type:
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Total variants: 55
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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.2699C>T (p.Ala900Val) rs685523 0.10882
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_139027.6(ADAMTS13):c.3909+32T>C rs3094374 0.06065
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_139027.6(ADAMTS13):c.173-48G>A rs35194094 0.05607
NM_139027.6(ADAMTS13):c.173-18C>T rs35410697 0.04598
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_139027.6(ADAMTS13):c.3045-41G>A rs34100568 0.03287
NM_139027.6(ADAMTS13):c.3045-48T>C rs36023469 0.03287
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_139027.6(ADAMTS13):c.540-33G>A rs36218903 0.01059
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_139027.6(ADAMTS13):c.3250-19T>C rs36222582 0.00936
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_139027.6(ADAMTS13):c.3171G>A (p.Ala1057=) rs36222580 0.00268
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val) rs201607490 0.00118
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) rs36222275 0.00112
NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=) rs147112200 0.00073
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) rs142779872 0.00041
NM_139027.6(ADAMTS13):c.415-5C>T rs200230025 0.00039
NM_139027.6(ADAMTS13):c.3849C>T (p.Ile1283=) rs377686931 0.00031
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met) rs201522226
NM_139027.6(ADAMTS13):c.1540C>T (p.Arg514Trp)
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
NM_139027.6(ADAMTS13):c.2105-24C>G rs886038727
NM_139027.6(ADAMTS13):c.2234+17C>A
NM_139027.6(ADAMTS13):c.3604T>C (p.Leu1202=) rs1554796106
NM_139027.6(ADAMTS13):c.373C>A (p.Arg125=)
NM_139027.6(ADAMTS13):c.420= (p.Ala140=)
NM_139027.6(ADAMTS13):c.627C>G (p.Leu209=)

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