List of variants reported as benign for Infantile hypophosphatasia by Genome-Nilou Lab

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.473-70A>G	rs1767428	0.98539
NM_000478.6(ALPL):c.330T>C (p.Ser110=)	rs1780316	0.92311
NM_000478.6(ALPL):c.862+58C>T	rs2275375	0.25723
NM_000478.6(ALPL):c.1190-65C>A	rs1780329	0.24659
NM_000478.6(ALPL):c.298-97C>T	rs1256336	0.24412
NM_000478.6(ALPL):c.876A>G (p.Pro292=)	rs3200255	0.18763
NM_000478.6(ALPL):c.863-46G>A	rs74063110	0.18536
NM_000478.6(ALPL):c.863-12C>G	rs75829132	0.18464
NM_000478.6(ALPL):c.862+51G>A	rs2275376	0.17994
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.792+76T>C	rs3738097	0.17870
NM_000478.6(ALPL):c.863-7T>C	rs74063111	0.17114
NM_000478.6(ALPL):c.793-31C>T	rs1256328	0.13784
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)	rs34605986	0.07856
NM_000478.6(ALPL):c.1309+46C>T	rs4654760	0.07555
NM_000478.6(ALPL):c.792+45G>T	rs3738098	0.07447
NM_000478.6(ALPL):c.455G>A (p.Arg152His)	rs149344982	0.00814

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