ClinVar Miner

List of variants in gene ALPL reported as uncertain significance by GeneDx

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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.1562G>A (p.Ser521Asn) rs368326384 0.00003
NM_000478.6(ALPL):c.757G>A (p.Val253Ile) rs151270365 0.00003
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.208G>A (p.Ala70Thr) rs147116628 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.650T>C (p.Val217Ala) rs777699004 0.00001
NM_000478.6(ALPL):c.962G>A (p.Arg321Gln) rs138679161 0.00001
NM_000478.6(ALPL):c.-3A>C
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1094T>G (p.Leu365Trp) rs2148189860
NM_000478.6(ALPL):c.1151C>G (p.Thr384Arg)
NM_000478.6(ALPL):c.1214C>G (p.Thr405Arg)
NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) rs2148192467
NM_000478.6(ALPL):c.1503C>T (p.Ser501=) rs1644757548
NM_000478.6(ALPL):c.166A>G (p.Met56Val)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.182-2_200dup
NM_000478.6(ALPL):c.245G>A (p.Gly82Glu) rs2148152529
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.35C>T (p.Thr12Ile) rs1570252164
NM_000478.6(ALPL):c.515C>T (p.Ala172Val) rs1570276506
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) rs1057522942
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.803T>G (p.Phe268Cys)
NM_000478.6(ALPL):c.822A>T (p.Glu274Asp)
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.88C>G (p.Arg30Gly) rs1057516334
NM_000478.6(ALPL):c.906C>A (p.Asn302Lys) rs560308330

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