ClinVar Miner

List of variants in gene ALPL reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316 0.07689
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_000478.6(ALPL):c.863-279G>A rs149494237 0.01351
NM_000478.6(ALPL):c.473-220G>A rs143655090 0.01204
NM_000478.6(ALPL):c.298-147G>A rs115987196 0.01154
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000478.6(ALPL):c.1309+240C>T rs183141968 0.01019
NM_000478.6(ALPL):c.862+28G>A rs60096575 0.00940
NM_000478.6(ALPL):c.61+121T>A rs112024500 0.00930
NM_000478.6(ALPL):c.649-256G>A rs114545502 0.00884
NM_000478.6(ALPL):c.62-63T>G rs111273276 0.00871
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_000478.6(ALPL):c.998-286G>A rs76731989 0.00816
NM_000478.6(ALPL):c.*204T>C rs116162120 0.00808
NM_000478.6(ALPL):c.648+295T>G rs77544754 0.00782
NM_000478.6(ALPL):c.1310-239A>C rs74343859 0.00690
NM_000478.6(ALPL):c.*66C>A rs78043671 0.00395
NM_000478.6(ALPL):c.863-53C>A rs138541760 0.00377
NM_000478.6(ALPL):c.297+92C>A rs182567506 0.00325
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000478.6(ALPL):c.473-12C>T rs147181132 0.00137
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.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.-104-5T>C rs184586988 0.00097
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_000478.6(ALPL):c.1380C>T (p.Ala460=) rs371984578 0.00019
NM_000478.6(ALPL):c.1189+295GATG[11] rs371658562
NM_000478.6(ALPL):c.1189+295GATG[8] rs371658562
NM_000478.6(ALPL):c.1190-235_1190-228dup rs1182369387
NM_000478.6(ALPL):c.1190-260_1190-240del rs1558557870
NM_000478.6(ALPL):c.1190-268_1190-267insGATGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGATG rs1553414701
NM_000478.6(ALPL):c.1542G>A (p.Ala514=) rs3200256
NM_000478.6(ALPL):c.182-5_182-3dup rs1553411889
NM_000478.6(ALPL):c.298-42C>A rs112855382
NM_000478.6(ALPL):c.61+184AT[11] rs61491376
NM_000478.6(ALPL):c.61+184AT[8] rs61491376
NM_000478.6(ALPL):c.863-200_863-188del rs199875083
NM_000478.6(ALPL):c.863-200_863-195del rs1478727600

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