List of variants in gene ALPL reported as benign for Hypophosphatasia

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: 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.*126A>G	rs1697406	0.87087
NM_000478.6(ALPL):c.863-12C>G	rs75829132	0.18904
NM_000478.6(ALPL):c.876A>G (p.Pro292=)	rs3200255	0.18763
NM_000478.6(ALPL):c.*233A>C	rs1772719	0.18683
NM_000478.6(ALPL):c.787T>C (p.Tyr263His)	rs3200254	0.18344
NM_000478.6(ALPL):c.863-7T>C	rs74063111	0.17623
NM_000478.6(ALPL):c.*388C>T	rs2242420	0.11550
NM_000478.6(ALPL):c.*433A>G	rs2242421	0.10478
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)	rs34605986	0.07856
NM_000478.6(ALPL):c.*460G>A	rs114552089	0.02700
NM_000478.6(ALPL):c.*305C>T	rs76073898	0.02522
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)	rs3200256	0.01113
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.1119C>T (p.Thr373=)	rs112335417	0.00792
NM_000478.6(ALPL):c.*204T>C	rs116162120	0.00769
NM_000478.6(ALPL):c.*66C>A	rs78043671	0.00395
NM_000478.6(ALPL):c.*480A>C	rs138564953	0.00281
NM_000478.6(ALPL):c.859T>C (p.Leu287=)	rs141742288	0.00141
NM_000478.6(ALPL):c.997+11C>T	rs187255765	0.00105
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	rs148405563	0.00101
NM_000478.6(ALPL):c.858A>G (p.Leu286=)	rs375027534	0.00062
NM_000478.6(ALPL):c.534C>T (p.Tyr178=)	rs201250289	0.00023
NM_000478.6(ALPL):c.*473G>T	rs536009840	0.00010
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)	rs150849772	0.00002
NM_000478.6(ALPL):c.*65C>A	rs1697405
NM_000478.6(ALPL):c.*65C>T	rs1697405
NM_000478.6(ALPL):c.472+12del	rs35423948

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