List of variants reported as uncertain significance for Hypophosphatasia by JKU Lab, Dept of Paediatrics, Johannes Kepler University

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	rs148405563	0.00106
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val)	rs1437787933	0.00001
NM_000478.6(ALPL):c.1072G>A (p.Ala358Thr)	rs2148189769
NM_000478.6(ALPL):c.1225C>G (p.Pro409Ala)
NM_000478.6(ALPL):c.1225C>T (p.Pro409Ser)
NM_000478.6(ALPL):c.1238T>C (p.Ile413Thr)	rs2148192434
NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser)	rs1644741692
NM_000478.6(ALPL):c.1333T>A (p.Ser445Thr)	rs1553415041
NM_000478.6(ALPL):c.1376T>C (p.Val459Ala)	rs2148194744
NM_000478.6(ALPL):c.1379C>T (p.Ala460Val)	rs2148194761
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.1451T>C (p.Met484Thr)
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser)	rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg)
NM_000478.6(ALPL):c.206C>T (p.Ala69Val)
NM_000478.6(ALPL):c.297+5G>A
NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)
NM_000478.6(ALPL):c.433A>G (p.Asn145Asp)	rs2148158880
NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)
NM_000478.6(ALPL):c.538C>A (p.His180Asn)	rs2148161530
NM_000478.6(ALPL):c.539A>G (p.His180Arg)
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.625A>T (p.Met209Leu)	rs1644530700
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr)	rs1416572796
NM_000478.6(ALPL):c.889T>A (p.Tyr297Asn)	rs2148184355
NM_000478.6(ALPL):c.906C>A (p.Asn302Lys)	rs560308330
NM_000478.6(ALPL):c.955A>T (p.Ile319Phe)
NM_000478.6(ALPL):c.968A>T (p.Asn323Ile)	rs2148184743

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