List of variants in gene HYAL1 reported as uncertain significance for carbohydrate metabolism disease

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: 112

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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_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)	rs202067357	0.00009
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.587G>A (p.Arg196His)	rs782200654	0.00006
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)	rs377272298	0.00005
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)	rs1346505806	0.00005
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_033159.4(HYAL1):c.14T>C (p.Leu5Pro)	rs138329304	0.00004
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)	rs368360137	0.00004
NM_153281.2(HYAL1):c.-191+15A>G	rs886058695	0.00004
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys)	rs782450263	0.00003
NM_033159.4(HYAL1):c.449G>A (p.Arg150His)	rs782788446	0.00002
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn)	rs376502179	0.00002
NM_033159.4(HYAL1):c.915C>T (p.His305=)	rs1290078379	0.00002
NM_033159.4(HYAL1):c.-5G>A	rs368638384	0.00001
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)	rs782279681	0.00001
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)	rs587595632	0.00001
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)	rs782298295	0.00001
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)	rs782616691	0.00001
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)	rs782491043	0.00001
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr)	rs782713825	0.00001
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser)	rs587647302	0.00001
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu)	rs1473371417	0.00001
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln)	rs782751421	0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)	rs781838448	0.00001
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)	rs782299729	0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)	rs104893743	0.00001
NM_033159.4(HYAL1):c.952G>A (p.Val318Met)	rs1553712745	0.00001
NM_033159.4(HYAL1):c.*106G>C	rs903056291
NM_033159.4(HYAL1):c.*333C>G	rs1702060462
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)	rs782279681
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)	rs1702097712
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)	rs782055404
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)	rs781999703
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)	rs587680396
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile)	rs1221211075
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys)	rs782638873
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)	rs781865734
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg)	rs1471550375
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
NM_033159.4(HYAL1):c.407G>A (p.Arg136His)	rs376279134
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)	rs782343934
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln)	rs144539557
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)	rs587774476
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln)	rs781929111
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)	rs1225771471
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)	rs902728091
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)	rs1553712742
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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