ClinVar Miner

List of variants in gene HYAL1 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_033159.4(HYAL1):c.141C>T (p.His47=) rs147089930 0.00024
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005 0.00016
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.1281G>A (p.Pro427=) rs782573040 0.00011
NM_033159.4(HYAL1):c.981A>G (p.Thr327=) rs146431309 0.00008
NM_033159.4(HYAL1):c.1050C>T (p.Asn350=) rs148913295 0.00007
NM_033159.4(HYAL1):c.936C>T (p.Ala312=) rs375213606 0.00007
NM_033159.4(HYAL1):c.906G>A (p.Glu302=) rs372594999 0.00006
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298 0.00005
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366 0.00005
NM_033159.4(HYAL1):c.1188G>T (p.Gly396=) rs781878519 0.00004
NM_033159.4(HYAL1):c.258G>A (p.Thr86=) rs1185256255 0.00004
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619 0.00004
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) rs368360137 0.00004
NM_033159.4(HYAL1):c.1146T>C (p.Leu382=) rs1259207908 0.00003
NM_033159.4(HYAL1):c.201C>T (p.Arg67=) rs781862008 0.00003
NM_033159.4(HYAL1):c.321C>G (p.Ala107=) rs374789186 0.00003
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) rs782601965 0.00003
NM_033159.4(HYAL1):c.618C>T (p.Asp206=) rs782079716 0.00003
NM_033159.4(HYAL1):c.771G>A (p.Lys257=) rs781943397 0.00003
NM_033159.4(HYAL1):c.1209C>T (p.Ala403=) rs1553712428 0.00002
NM_033159.4(HYAL1):c.171T>C (p.Asp57=) rs587709776 0.00002
NM_033159.4(HYAL1):c.219T>C (p.Ile73=) rs782696394 0.00002
NM_033159.4(HYAL1):c.231C>T (p.Ser77=) rs781826964 0.00002
NM_033159.4(HYAL1):c.276G>A (p.Val92=) rs373545891 0.00002
NM_033159.4(HYAL1):c.408C>A (p.Arg136=) rs782343934 0.00002
NM_033159.4(HYAL1):c.570G>A (p.Gly190=) rs782343493 0.00002
NM_033159.4(HYAL1):c.615T>C (p.Pro205=) rs782722149 0.00002
NM_033159.4(HYAL1):c.747C>T (p.Pro249=) rs139187462 0.00002
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379 0.00002
NM_033159.4(HYAL1):c.987C>G (p.Thr329=) rs368220900 0.00002
NM_033159.4(HYAL1):c.1044C>T (p.Ile348=) rs372595265 0.00001
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=) rs782279681 0.00001
NM_033159.4(HYAL1):c.1092C>T (p.Ser364=) rs782610786 0.00001
NM_033159.4(HYAL1):c.1098T>C (p.His366=) rs1702096627 0.00001
NM_033159.4(HYAL1):c.1128C>T (p.Pro376=) rs781894836 0.00001
NM_033159.4(HYAL1):c.12C>T (p.His4=) rs202199091 0.00001
NM_033159.4(HYAL1):c.159C>T (p.Val53=) rs1428586805 0.00001
NM_033159.4(HYAL1):c.189G>A (p.Gly63=) rs1553713387 0.00001
NM_033159.4(HYAL1):c.204C>T (p.Gly68=) rs375395138 0.00001
NM_033159.4(HYAL1):c.222C>T (p.Phe74=) rs1559820613 0.00001
NM_033159.4(HYAL1):c.252C>T (p.Tyr84=) rs782128403 0.00001
NM_033159.4(HYAL1):c.27C>T (p.Cys9=) rs781916060 0.00001
NM_033159.4(HYAL1):c.327A>G (p.Thr109=) rs1553713301 0.00001
NM_033159.4(HYAL1):c.408C>T (p.Arg136=) rs782343934 0.00001
NM_033159.4(HYAL1):c.48C>T (p.Leu16=) rs377440947 0.00001
NM_033159.4(HYAL1):c.498G>A (p.Gln166=) rs200077067 0.00001
NM_033159.4(HYAL1):c.543C>T (p.Ala181=) rs782012779 0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448 0.00001
NM_033159.4(HYAL1):c.654C>T (p.Thr218=) rs782051318 0.00001
NM_033159.4(HYAL1):c.663C>T (p.Cys221=) rs374889084 0.00001
NM_033159.4(HYAL1):c.694C>T (p.Leu232=) rs1553713126 0.00001
NM_033159.4(HYAL1):c.699G>A (p.Gly233=) rs200718831 0.00001
NM_033159.4(HYAL1):c.69G>A (p.Arg23=) rs1553713459 0.00001
NM_033159.4(HYAL1):c.726C>G (p.Leu242=) rs781796869 0.00001
NM_033159.4(HYAL1):c.738C>T (p.Ile246=) rs1391982334 0.00001
NM_033159.4(HYAL1):c.84C>T (p.Pro28=) rs782588575 0.00001
NM_033159.4(HYAL1):c.873T>C (p.Tyr291=) rs1239417242 0.00001
NM_033159.4(HYAL1):c.879G>A (p.Thr293=) rs1553713033 0.00001
NM_033159.4(HYAL1):c.901-8C>A rs1402365646 0.00001
NM_033159.4(HYAL1):c.909G>A (p.Leu303=) rs1354541662 0.00001
NM_033159.4(HYAL1):c.933G>A (p.Ala311=) rs200373793 0.00001
NM_033159.4(HYAL1):c.991-8C>G rs781831071 0.00001
NM_033159.4(HYAL1):c.1005C>T (p.Ala335=)
NM_033159.4(HYAL1):c.1014G>A (p.Glu338=)
NM_033159.4(HYAL1):c.1017T>C (p.Tyr339=) rs2109302970
NM_033159.4(HYAL1):c.102C>G (p.Thr34=) rs373591585
NM_033159.4(HYAL1):c.102C>T (p.Thr34=) rs373591585
NM_033159.4(HYAL1):c.1030C>T (p.Leu344=) rs1239924466
NM_033159.4(HYAL1):c.1038C>G (p.Pro346=)
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) rs782279681
NM_033159.4(HYAL1):c.1056C>T (p.Thr352=)
NM_033159.4(HYAL1):c.1071C>T (p.Leu357=)
NM_033159.4(HYAL1):c.1084C>T (p.Leu362=) rs1702098144
NM_033159.4(HYAL1):c.1110C>A (p.Val370=)
NM_033159.4(HYAL1):c.1110C>G (p.Val370=)
NM_033159.4(HYAL1):c.111T>C (p.Asn37=)
NM_033159.4(HYAL1):c.1125C>T (p.His375=)
NM_033159.4(HYAL1):c.1137C>T (p.Leu379=)
NM_033159.4(HYAL1):c.1155C>T (p.Ala385=)
NM_033159.4(HYAL1):c.1173C>T (p.Leu391=) rs2109302277
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) rs587680396
NM_033159.4(HYAL1):c.1176G>C (p.Thr392=) rs587680396
NM_033159.4(HYAL1):c.1197C>T (p.Ser399=) rs1553712441
NM_033159.4(HYAL1):c.1198C>T (p.Leu400=) rs989449756
NM_033159.4(HYAL1):c.1203G>T (p.Arg401=) rs2109302089
NM_033159.4(HYAL1):c.1209C>G (p.Ala403=) rs1553712428
NM_033159.4(HYAL1):c.120C>G (p.Thr40=) rs782749500
NM_033159.4(HYAL1):c.1212C>G (p.Leu404=) rs1702084252
NM_033159.4(HYAL1):c.1230A>G (p.Ala410=)
NM_033159.4(HYAL1):c.1230A>T (p.Ala410=)
NM_033159.4(HYAL1):c.1245G>A (p.Glu415=) rs1702083003
NM_033159.4(HYAL1):c.1269C>A (p.Gly423=)
NM_033159.4(HYAL1):c.1299C>T (p.Ser433=)
NM_033159.4(HYAL1):c.147G>A (p.Val49=)
NM_033159.4(HYAL1):c.15G>C (p.Leu5=) rs1702232203
NM_033159.4(HYAL1):c.219T>A (p.Ile73=) rs782696394
NM_033159.4(HYAL1):c.21C>T (p.Pro7=)
NM_033159.4(HYAL1):c.235C>T (p.Leu79=)
NM_033159.4(HYAL1):c.24C>T (p.Ile8=) rs370239620
NM_033159.4(HYAL1):c.255C>T (p.Tyr85=) rs2109308586
NM_033159.4(HYAL1):c.261C>T (p.Pro87=) rs942837278
NM_033159.4(HYAL1):c.267G>A (p.Gly89=) rs587724757
NM_033159.4(HYAL1):c.267G>C (p.Gly89=) rs587724757
NM_033159.4(HYAL1):c.288G>T (p.Leu96=) rs2109308488
NM_033159.4(HYAL1):c.30C>T (p.Ala10=)
NM_033159.4(HYAL1):c.312C>G (p.Ala104=)
NM_033159.4(HYAL1):c.318G>T (p.Leu106=) rs782692193
NM_033159.4(HYAL1):c.327A>T (p.Thr109=)
NM_033159.4(HYAL1):c.348C>T (p.Ala116=)
NM_033159.4(HYAL1):c.363C>T (p.Asp121=) rs2109308228
NM_033159.4(HYAL1):c.36C>T (p.Phe12=) rs2109309315
NM_033159.4(HYAL1):c.387C>T (p.Asp129=)
NM_033159.4(HYAL1):c.417C>T (p.Phe139=)
NM_033159.4(HYAL1):c.420C>T (p.Asn140=) rs782291492
NM_033159.4(HYAL1):c.432G>A (p.Lys144=)
NM_033159.4(HYAL1):c.43T>C (p.Leu15=) rs1702231251
NM_033159.4(HYAL1):c.454C>A (p.Arg152=) rs587774476
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) rs587774476
NM_033159.4(HYAL1):c.504G>A (p.Glu168=) rs1553713217
NM_033159.4(HYAL1):c.516G>A (p.Gln172=) rs2109307766
NM_033159.4(HYAL1):c.528G>A (p.Gln176=)
NM_033159.4(HYAL1):c.534T>C (p.Ala178=)
NM_033159.4(HYAL1):c.537A>T (p.Ala179=)
NM_033159.4(HYAL1):c.540G>A (p.Arg180=) rs2109307682
NM_033159.4(HYAL1):c.564G>A (p.Gln188=)
NM_033159.4(HYAL1):c.571C>A (p.Arg191=) rs143791794
NM_033159.4(HYAL1):c.573G>A (p.Arg191=)
NM_033159.4(HYAL1):c.600C>T (p.Gly200=) rs374928005
NM_033159.4(HYAL1):c.612C>T (p.Phe204=) rs781783393
NM_033159.4(HYAL1):c.615T>G (p.Pro205=)
NM_033159.4(HYAL1):c.621C>T (p.Cys207=)
NM_033159.4(HYAL1):c.627C>T (p.Asn209=)
NM_033159.4(HYAL1):c.637C>T (p.Leu213=) rs782132370
NM_033159.4(HYAL1):c.639A>G (p.Leu213=) rs1559819460
NM_033159.4(HYAL1):c.63C>A (p.Gly21=)
NM_033159.4(HYAL1):c.651C>T (p.Tyr217=) rs2109307304
NM_033159.4(HYAL1):c.666A>G (p.Pro222=) rs1366454491
NM_033159.4(HYAL1):c.669A>G (p.Ser223=) rs939067401
NM_033159.4(HYAL1):c.705G>A (p.Leu235=)
NM_033159.4(HYAL1):c.735C>T (p.Ser245=)
NM_033159.4(HYAL1):c.753G>A (p.Val251=) rs2109307030
NM_033159.4(HYAL1):c.75C>G (p.Pro25=)
NM_033159.4(HYAL1):c.765A>G (p.Thr255=) rs2109307002
NM_033159.4(HYAL1):c.768G>C (p.Gly256=)
NM_033159.4(HYAL1):c.774A>G (p.Ser258=) rs1363657470
NM_033159.4(HYAL1):c.783T>C (p.Tyr261=) rs2109306923
NM_033159.4(HYAL1):c.789A>G (p.Gln263=) rs1702190189
NM_033159.4(HYAL1):c.792C>T (p.His264=)
NM_033159.4(HYAL1):c.801C>G (p.Ala267=)
NM_033159.4(HYAL1):c.801C>T (p.Ala267=) rs149438911
NM_033159.4(HYAL1):c.825T>G (p.Ala275=)
NM_033159.4(HYAL1):c.834C>T (p.Asp278=)
NM_033159.4(HYAL1):c.837C>G (p.Pro279=) rs2109306714
NM_033159.4(HYAL1):c.837C>T (p.Pro279=) rs2109306714
NM_033159.4(HYAL1):c.846G>C (p.Pro282=) rs782094366
NM_033159.4(HYAL1):c.855C>G (p.Pro285=) rs2109306638
NM_033159.4(HYAL1):c.876C>T (p.Asp292=)
NM_033159.4(HYAL1):c.900+10C>G
NM_033159.4(HYAL1):c.900+14A>T
NM_033159.4(HYAL1):c.900+16C>A
NM_033159.4(HYAL1):c.900+16C>G
NM_033159.4(HYAL1):c.900+17C>T
NM_033159.4(HYAL1):c.900+18T>G
NM_033159.4(HYAL1):c.901-13G>A
NM_033159.4(HYAL1):c.901-16G>A
NM_033159.4(HYAL1):c.901-20C>T rs2109304533
NM_033159.4(HYAL1):c.901-7T>C
NM_033159.4(HYAL1):c.90G>A (p.Arg30=) rs2109309118
NM_033159.4(HYAL1):c.919C>T (p.Leu307=) rs587687583
NM_033159.4(HYAL1):c.921G>A (p.Leu307=) rs782200873
NM_033159.4(HYAL1):c.933G>C (p.Ala311=)
NM_033159.4(HYAL1):c.936C>G (p.Ala312=) rs375213606
NM_033159.4(HYAL1):c.954G>A (p.Val318=) rs2109304145
NM_033159.4(HYAL1):c.957G>A (p.Val319=)
NM_033159.4(HYAL1):c.966G>A (p.Val322=) rs1467161408
NM_033159.4(HYAL1):c.969C>T (p.Ser323=) rs978042622
NM_033159.4(HYAL1):c.987C>A (p.Thr329=)
NM_033159.4(HYAL1):c.990+12C>T
NM_033159.4(HYAL1):c.990+15G>A
NM_033159.4(HYAL1):c.990+19T>A
NM_033159.4(HYAL1):c.991-11T>A
NM_033159.4(HYAL1):c.991-20T>C
NM_033159.4(HYAL1):c.991-5C>T
NM_033159.4(HYAL1):c.991-6A>C
NM_033159.4(HYAL1):c.996A>C (p.Ser332=)
NM_033159.4(HYAL1):c.996A>G (p.Ser332=)
NM_033159.4(HYAL1):c.99C>A (p.Thr33=)

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