ClinVar Miner

List of variants reported as benign for Gray platelet syndrome

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.95269
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55914
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.49587
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634 0.48105
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) rs2305635 0.34360
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.25010
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.14554
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.*179C>A rs111271184 0.06130
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 0.03398
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02816
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01958
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 0.00573
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00529
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.6378C>T (p.Ile2126=) rs187781607 0.00159
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.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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