ClinVar Miner

List of variants in gene NBEAL2 reported as benign for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_015175.2(NBEAL2):c.*104del rs397708574
NM_015175.2(NBEAL2):c.*179C>A rs111271184
NM_015175.2(NBEAL2):c.*216A>G rs2305640
NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) rs61734084
NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) rs17079425
NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) rs115611407
NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) rs114363730
NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996
NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) rs116456978
NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) rs113523265
NM_015175.2(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454
NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394
NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851
NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634
NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) rs2305635
NM_015175.2(NBEAL2):c.5302-13A>T rs11928558
NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682
NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637
NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354
NM_015175.2(NBEAL2):c.6919+9T>C rs3816531
NM_015175.2(NBEAL2):c.7507+6A>G rs74418680
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191

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