ClinVar Miner

List of variants in gene ALPL reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00047
NM_000478.6(ALPL):c.1380C>T (p.Ala460=) rs371984578 0.00019
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.1404G>A (p.Ala468=) rs774384124 0.00001
NM_000478.6(ALPL):c.1476C>T (p.Ala492=) rs774516408 0.00001
NM_000478.6(ALPL):c.1263C>T (p.Tyr421=) rs780762265
NM_000478.6(ALPL):c.297+6C>T
NM_000478.6(ALPL):c.435C>T (p.Asn145=) rs930415465
NM_000478.6(ALPL):c.62-8G>A rs1253638377
NM_000478.6(ALPL):c.793-30G>A
NM_000478.6(ALPL):c.862+6T>C rs956701286
NM_000478.6(ALPL):c.863-15T>A rs373980626

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