List of variants in gene ALPL reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)	rs552831415	0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	rs121918017	0.00003
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)	rs756418235	0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	rs772682471	0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	rs139811782	0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)	rs200621180	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)	rs786204442	0.00001
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs)	rs1553414600
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)	rs1344601362
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)	rs2148195004
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	rs1644478533
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	rs2148152544
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	rs1558548925
NM_000478.6(ALPL):c.649-1G>A	rs2148171286

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