List of variants in gene NBEAL2 reported as benign for gray platelet syndrome

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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: 31

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HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T	rs11928558	0.94785
NM_015175.3(NBEAL2):c.6560+31G>C	rs2305638	0.55153
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=)	rs2305634	0.48105
NM_015175.3(NBEAL2):c.1033-28C>T	rs13066214	0.48036
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=)	rs2305635	0.34360
NM_015175.3(NBEAL2):c.6801+21A>C	rs13081418	0.24157
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe)	rs2305637	0.13655
NM_015175.3(NBEAL2):c.*179C>A	rs111271184	0.06795
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=)	rs115611407	0.06231
NM_015175.3(NBEAL2):c.*216A>G	rs2305640	0.04972
NM_015175.3(NBEAL2):c.6919+9T>C	rs3816531	0.04927
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His)	rs17079425	0.03601
NM_015175.3(NBEAL2):c.7507+6A>G	rs74418680	0.02879
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=)	rs12489851	0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=)	rs116456978	0.01945
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=)	rs140548682	0.01370
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=)	rs114363730	0.00928
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=)	rs141569354	0.00844
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=)	rs116791394	0.00742
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=)	rs72909849	0.00728
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=)	rs139822454	0.00554
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=)	rs61734084	0.00344
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)	rs116104760	0.00338
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=)	rs113523265	0.00121
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=)	rs80105480	0.00066
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=)	rs187781607	0.00061
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala)	rs200666191	0.00030
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu)	rs375744996	0.00002
NM_015175.3(NBEAL2):c.*104del	rs397708574
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly)	rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=)	rs1079276

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