ClinVar Miner

List of variants in gene ALPL reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.*126A>G rs1697406 0.87087
NM_000478.6(ALPL):c.*233A>C rs1772719 0.18915
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_000478.6(ALPL):c.*388C>T rs2242420 0.11550
NM_000478.6(ALPL):c.*433A>G rs2242421 0.09301
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.*305C>T rs76073898 0.02707
NM_000478.6(ALPL):c.*460G>A rs114552089 0.02700
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.*204T>C rs116162120 0.00808
NM_000478.6(ALPL):c.*66C>A rs78043671 0.00395
NM_000478.6(ALPL):c.*480A>C rs138564953 0.00281
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.997+11C>T rs187255765 0.00105
NM_000478.6(ALPL):c.*473G>T rs536009840 0.00010
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_000478.6(ALPL):c.*65C>A rs1697405
NM_000478.6(ALPL):c.*65C>T rs1697405
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289

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