ClinVar Miner

List of variants reported as uncertain significance for Acute lymphoid leukemia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_006060.6(IKZF1):c.398T>C (p.Met133Thr) rs764847531 0.00006
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) rs937630364 0.00001
NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) rs1554654113
NM_001280548.2(PAX5):c.1013-6288_1013-6274del
NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)
NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn) rs2153518093
NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr)
NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu)
NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)
NM_006060.6(IKZF1):c.161-8275C>T
NM_006060.6(IKZF1):c.161-8401C>T
NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)
NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_182918.4(ERG):c.1087G>A (p.Asp363Asn)
NM_182918.4(ERG):c.1088A>G (p.Asp363Gly)
NM_182918.4(ERG):c.1102G>A (p.Ala368Thr)
NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn)
NM_182918.4(ERG):c.657G>A (p.Met219Ile)

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