ClinVar Miner

List of variants reported as uncertain significance for gray platelet syndrome by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys) rs199944912 0.00019
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) rs376623029 0.00011
NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp) rs748364740 0.00006
NM_001377304.1(GFI1B):c.230C>T (p.Pro77Leu)
NM_015175.3(NBEAL2):c.37C>T (p.Leu13Phe)
NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg) rs2036970287
NM_015175.3(NBEAL2):c.4745G>A (p.Arg1582Gln)
NM_015175.3(NBEAL2):c.4786C>T (p.His1596Tyr)
NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser) rs200608141
NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)

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