List of variants in gene MASTL reported as benign for blood platelet disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_001172303.3(MASTL):c.-27T>C	rs7907981	0.79017
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.1858C>G (p.Pro620Ala)	rs3802526	0.06970
NM_001172303.3(MASTL):c.2139G>A (p.Gln713=)	rs41282228	0.01126
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.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.2120A>T (p.His707Leu)	rs34635408	0.00076
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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