List of variants reported as uncertain significance for Deficiency of hyaluronoglucosaminidase by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_153281.2(HYAL1):c.-319T>C	rs1429084988	0.00618
NM_033159.4(HYAL1):c.*173T>C	rs184872974	0.00250
NM_153281.2(HYAL1):c.-320_-319del	rs782640837	0.00162
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)	rs143176318	0.00082
NM_033159.4(HYAL1):c.*434C>T	rs182987423	0.00076
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)	rs147678727	0.00046
NM_033159.4(HYAL1):c.*459G>A	rs150976767	0.00024
NM_153281.2(HYAL1):c.-395G>A	rs886058699	0.00019
NM_153281.2(HYAL1):c.-89G>A	rs141540659	0.00019
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)	rs369935445	0.00013
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)	rs377105091	0.00012
NM_153281.2(HYAL1):c.-90C>T	rs886058694	0.00008
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)	rs374011925	0.00006
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)	rs782094366	0.00005
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)	rs368957453	0.00004
NM_153281.2(HYAL1):c.-191+15A>G	rs886058695	0.00004
NM_033159.4(HYAL1):c.-5G>A	rs368638384	0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)	rs781838448	0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)	rs104893743	0.00001
NM_033159.4(HYAL1):c.*106G>C	rs903056291
NM_033159.4(HYAL1):c.*333C>G	rs1702060462
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)	rs782279681
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)	rs1702097712
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)	rs587680396
NM_153281.2(HYAL1):c.-237A>T	rs1702408973
NM_153281.2(HYAL1):c.-310+12dup	rs886058696
NM_153281.2(HYAL1):c.-384G>A	rs886058698

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