List of variants in gene ACBD5, MASTL studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.*29T>C	rs10764686	0.49803
NM_001172303.3(MASTL):c.*114A>G	rs10764687	0.07899
NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile)	rs35571315	0.00955
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile)	rs138288481	0.00338
NM_001172303.3(MASTL):c.*60A>T	rs570139166	0.00076
NM_001172303.3(MASTL):c.*132G>A	rs570707157	0.00075
NM_001172303.3(MASTL):c.*51T>A	rs752083792	0.00003
NM_001172303.3(MASTL):c.2521G>A (p.Glu841Lys)	rs1188516311	0.00001
NM_001172303.3(MASTL):c.2526T>C (p.Asn842=)	rs886046961	0.00001
NM_001172303.3(MASTL):c.*203T>A	rs886046962
NM_001172303.3(MASTL):c.*252T>C	rs886046963
NM_001172303.3(MASTL):c.2517C>T (p.Asp839=)	rs886046960

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