ClinVar Miner

List of variants in gene ADAMTS13 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
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.2384C>T (p.Ala795Val) rs201607490 0.00118
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
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.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_139027.6(ADAMTS13):c.3604T>C (p.Leu1202=) rs1554796106

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