ClinVar Miner

List of variants in gene ALPL reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
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.862+20G>T rs2275377 0.17895
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.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111

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