ClinVar Miner

List of variants in gene NBEAL2 reported as likely pathogenic for Gray platelet syndrome

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.2(NBEAL2):c.6920delG
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs)
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys)
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs)
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)

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