ClinVar Miner

List of variants reported as benign for Thrombocytopenia

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001172303.3(MASTL):c.-27T>C rs7907981 0.79017
NM_001172303.3(MASTL):c.2619T>C (p.Thr873=) rs10741130 0.61478
NM_001172303.3(MASTL):c.*228T>C rs1338 0.61051
NM_001172303.3(MASTL):c.-28C>A rs7919803 0.60854
NM_001172303.3(MASTL):c.1782C>T (p.Ile594=) rs1981296 0.60781
NM_001172303.3(MASTL):c.660+12A>T rs7068375 0.60773
NM_001172303.3(MASTL):c.*29T>C rs10764686 0.49803
NM_001172303.3(MASTL):c.*114A>G rs10764687 0.07899
NM_001172303.3(MASTL):c.1858C>G (p.Pro620Ala) rs3802526 0.06970
NM_001172303.3(MASTL):c.2139G>A (p.Gln713=) rs41282228 0.01126
NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile) rs35571315 0.00955
NM_001172303.3(MASTL):c.477G>A (p.Pro159=) rs56204835 0.00583
NM_001172303.3(MASTL):c.1010C>A (p.Thr337Lys) rs36121140 0.00398
NM_001172303.3(MASTL):c.1736T>C (p.Met579Thr) rs150341657 0.00369
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_001172303.3(MASTL):c.1415A>G (p.Glu472Gly) rs139695329 0.00223
NM_001172303.3(MASTL):c.2298T>C (p.Val766=) rs115175971 0.00223
NM_001172303.3(MASTL):c.1488C>T (p.His496=) rs74126920 0.00212
NM_001172303.3(MASTL):c.1045G>A (p.Ala349Thr) rs146165894 0.00151
NM_001172303.3(MASTL):c.2060A>G (p.Tyr687Cys) rs41282224 0.00091
NM_001172303.3(MASTL):c.*60A>T rs570139166 0.00076
NM_001172303.3(MASTL):c.2120A>T (p.His707Leu) rs34635408 0.00076
NM_001172303.3(MASTL):c.*132G>A rs570707157 0.00075
NM_001172303.3(MASTL):c.34G>C (p.Gly12Arg) rs151176548 0.00072
NM_001172303.3(MASTL):c.1016T>A (p.Met339Lys) rs144503451 0.00063
NM_001172303.3(MASTL):c.871C>T (p.Leu291Phe) rs148318181 0.00055
NM_001172303.3(MASTL):c.812-8C>T rs190402403 0.00041
NM_001172303.3(MASTL):c.1816G>T (p.Asp606Tyr) rs35413630 0.00034
NM_001172303.3(MASTL):c.1355C>A (p.Ser452Tyr) rs148839815 0.00019
NM_001172303.3(MASTL):c.1930A>C (p.Lys644Gln) rs140163549 0.00009
NM_001172303.3(MASTL):c.324+4A>C rs751957791 0.00007
NM_001172303.3(MASTL):c.985-7C>T rs377728904 0.00003
NM_001172303.3(MASTL):c.-12T>G rs7907988
NM_001172303.3(MASTL):c.-53G>A rs3824593
NM_001172303.3(MASTL):c.1147C>T (p.Arg383Cys) rs117134003
NM_001172303.3(MASTL):c.985-15T>C rs545742347

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