ClinVar Miner

List of variants studied for Gray platelet syndrome by Genome-Nilou Lab

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Total variants: 8
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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.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276

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