ClinVar Miner

List of variants in gene GALNT12 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_024642.5(GALNT12):c.375C>T (p.Cys125=) rs114902755 0.00634
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00613
NM_024642.5(GALNT12):c.1677C>T (p.Phe559=) rs112898261 0.00465
NM_024642.5(GALNT12):c.1497C>T (p.Asn499=) rs35632007 0.00208
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_024642.5(GALNT12):c.1301C>T (p.Pro434Leu) rs34565987 0.00117
NM_024642.5(GALNT12):c.138G>A (p.Gly46=) rs557604978 0.00107
NM_024642.5(GALNT12):c.567T>C (p.Asn189=) rs150417178 0.00062
NM_024642.5(GALNT12):c.840C>T (p.Asp280=) rs150946638 0.00054
NM_024642.5(GALNT12):c.25C>G (p.Arg9Gly) rs889395877 0.00043
NM_024642.5(GALNT12):c.20G>T (p.Arg7Leu) rs568625965 0.00040
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser) rs183981750 0.00039
NM_024642.5(GALNT12):c.750G>A (p.Ser250=) rs146690078 0.00036
NM_024642.5(GALNT12):c.776T>C (p.Val259Ala) rs147356342 0.00026
NM_024642.5(GALNT12):c.1743A>G (p.Leu581=) rs141108592 0.00021
NM_024642.5(GALNT12):c.303C>G (p.His101Gln) rs201926457 0.00021
NM_024642.5(GALNT12):c.679C>G (p.Leu227Val) rs773546298 0.00019
NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu) rs59362219 0.00016
NM_024642.5(GALNT12):c.975G>A (p.Leu325=) rs140471094 0.00015
NM_024642.5(GALNT12):c.329G>A (p.Arg110His) rs374994372 0.00014
NM_024642.5(GALNT12):c.822C>T (p.Pro274=) rs372822158 0.00014
NM_024642.5(GALNT12):c.1131G>A (p.Leu377=) rs148125332 0.00013
NM_024642.5(GALNT12):c.144C>G (p.Ala48=) rs1060504772 0.00013
NM_024642.5(GALNT12):c.546C>T (p.His182=) rs142210894 0.00009
NM_024642.5(GALNT12):c.1563C>T (p.Cys521=) rs143860974 0.00008
NM_024642.5(GALNT12):c.904G>A (p.Val302Ile) rs780195786 0.00008
NM_024642.5(GALNT12):c.654G>A (p.Ala218=) rs745820082 0.00006
NM_024642.5(GALNT12):c.765G>A (p.Pro255=) rs779959875 0.00006
NM_024642.5(GALNT12):c.814G>A (p.Gly272Arg) rs367645298 0.00006
NM_024642.5(GALNT12):c.1464C>T (p.Phe488=) rs772731021 0.00004
NM_024642.5(GALNT12):c.1551C>T (p.Ile517=) rs878855094 0.00004
NM_024642.5(GALNT12):c.321C>T (p.Leu107=) rs748389861 0.00004
NM_024642.5(GALNT12):c.504A>G (p.Leu168=) rs768255136 0.00004
NM_024642.5(GALNT12):c.1197C>T (p.Asn399=) rs202043243 0.00003
NM_024642.5(GALNT12):c.1691G>A (p.Arg564Gln) rs778487948 0.00003
NM_024642.5(GALNT12):c.501G>T (p.Leu167=) rs200879096 0.00003
NM_024642.5(GALNT12):c.648G>A (p.Ala216=) rs773995200 0.00003
NM_024642.5(GALNT12):c.858G>T (p.Thr286=) rs202039153 0.00003
NM_024642.5(GALNT12):c.909T>C (p.Asp303=) rs777028537 0.00003
NM_024642.5(GALNT12):c.1020C>T (p.Leu340=) rs778251729 0.00002
NM_024642.5(GALNT12):c.1227T>C (p.Asp409=) rs773636372 0.00002
NM_024642.5(GALNT12):c.1277A>G (p.Lys426Arg) rs753534837 0.00002
NM_024642.5(GALNT12):c.129C>T (p.Ala43=) rs1315923578 0.00002
NM_024642.5(GALNT12):c.1338C>T (p.Phe446=) rs200788044 0.00002
NM_024642.5(GALNT12):c.1623C>T (p.His541=) rs375459562 0.00002
NM_024642.5(GALNT12):c.1653G>A (p.Ala551=) rs776668170 0.00002
NM_024642.5(GALNT12):c.288G>A (p.Glu96=) rs1456078114 0.00002
NM_024642.5(GALNT12):c.404T>C (p.Leu135Ser) rs370705797 0.00002
NM_024642.5(GALNT12):c.477C>G (p.Val159=) rs1014512076 0.00002
NM_024642.5(GALNT12):c.516C>T (p.Ile172=) rs761534603 0.00002
NM_024642.5(GALNT12):c.621C>T (p.Gly207=) rs374409845 0.00002
NM_024642.5(GALNT12):c.831C>T (p.Gly277=) rs145133746 0.00002
NM_024642.5(GALNT12):c.1044G>A (p.Gln348=) rs768255143 0.00001
NM_024642.5(GALNT12):c.1068C>T (p.His356=) rs555402872 0.00001
NM_024642.5(GALNT12):c.1203T>C (p.Arg401=) rs140977555 0.00001
NM_024642.5(GALNT12):c.1306C>T (p.Leu436=) rs1297882734 0.00001
NM_024642.5(GALNT12):c.1308G>C (p.Leu436=) rs781332510 0.00001
NM_024642.5(GALNT12):c.1393G>A (p.Asp465Asn) rs777862536 0.00001
NM_024642.5(GALNT12):c.1443G>A (p.Gly481=) rs925008420 0.00001
NM_024642.5(GALNT12):c.1473G>A (p.Thr491=) rs373044668 0.00001
NM_024642.5(GALNT12):c.1491C>T (p.Arg497=) rs765327993 0.00001
NM_024642.5(GALNT12):c.1500C>T (p.Thr500=) rs377188258 0.00001
NM_024642.5(GALNT12):c.1515C>T (p.Gly505=) rs369089798 0.00001
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=) rs1423291369 0.00001
NM_024642.5(GALNT12):c.1584T>C (p.Asn528=) rs757588259 0.00001
NM_024642.5(GALNT12):c.1599G>A (p.Leu533=) rs572700544 0.00001
NM_024642.5(GALNT12):c.1638A>G (p.Lys546=) rs771643059 0.00001
NM_024642.5(GALNT12):c.1655G>A (p.Arg552Lys) rs1285871027 0.00001
NM_024642.5(GALNT12):c.165C>T (p.Thr55=) rs937292083 0.00001
NM_024642.5(GALNT12):c.171C>T (p.Arg57=) rs1588436220 0.00001
NM_024642.5(GALNT12):c.1734G>A (p.Glu578=) rs769553219 0.00001
NM_024642.5(GALNT12):c.1736G>A (p.Arg579His) rs367620732 0.00001
NM_024642.5(GALNT12):c.277C>T (p.Leu93=) rs1231575822 0.00001
NM_024642.5(GALNT12):c.285G>A (p.Glu95=) rs1195790159 0.00001
NM_024642.5(GALNT12):c.291C>T (p.Ser97=) rs1238437424 0.00001
NM_024642.5(GALNT12):c.297G>A (p.Arg99=) rs978066439 0.00001
NM_024642.5(GALNT12):c.318C>T (p.Tyr106=) rs1444339435 0.00001
NM_024642.5(GALNT12):c.336A>G (p.Ser112=) rs1305094965 0.00001
NM_024642.5(GALNT12):c.411G>A (p.Arg137=) rs758204776 0.00001
NM_024642.5(GALNT12):c.657G>A (p.Ala219=) rs376494512 0.00001
NM_024642.5(GALNT12):c.675C>T (p.Thr225=) rs765213957 0.00001
NM_024642.5(GALNT12):c.813C>T (p.Ser271=) rs1060504773 0.00001
NM_024642.5(GALNT12):c.837C>T (p.Phe279=) rs754951224 0.00001
NM_024642.5(GALNT12):c.906C>T (p.Val302=) rs375005028 0.00001
NM_024642.5(GALNT12):c.1002T>C (p.Val334=)
NM_024642.5(GALNT12):c.1011A>G (p.Gly337=)
NM_024642.5(GALNT12):c.1014A>G (p.Glu338=)
NM_024642.5(GALNT12):c.1029C>T (p.Ser343=) rs771421585
NM_024642.5(GALNT12):c.1057C>T (p.Leu353=)
NM_024642.5(GALNT12):c.1064C>T (p.Thr355Ile)
NM_024642.5(GALNT12):c.1071A>G (p.Pro357=)
NM_024642.5(GALNT12):c.1083T>G (p.Val361=)
NM_024642.5(GALNT12):c.1086C>A (p.Gly362=)
NM_024642.5(GALNT12):c.1101G>A (p.Lys367=)
NM_024642.5(GALNT12):c.1110C>A (p.Pro370=) rs1588453890
NM_024642.5(GALNT12):c.1113C>T (p.Tyr371=)
NM_024642.5(GALNT12):c.1140T>C (p.Ser380=)
NM_024642.5(GALNT12):c.114G>A (p.Arg38=)
NM_024642.5(GALNT12):c.114G>C (p.Arg38=)
NM_024642.5(GALNT12):c.1152T>A (p.Ala384=)
NM_024642.5(GALNT12):c.117G>C (p.Ala39=)
NM_024642.5(GALNT12):c.1182C>G (p.Leu394=)
NM_024642.5(GALNT12):c.1188C>T (p.Tyr396=)
NM_024642.5(GALNT12):c.1200C>T (p.Pro400=)
NM_024642.5(GALNT12):c.1230G>T (p.Val410=)
NM_024642.5(GALNT12):c.123T>G (p.Arg41=)
NM_024642.5(GALNT12):c.1241A>G (p.Lys414Arg) rs892227579
NM_024642.5(GALNT12):c.1245G>A (p.Gln415=)
NM_024642.5(GALNT12):c.1254C>T (p.Asp418=)
NM_024642.5(GALNT12):c.1263G>A (p.Gln421=)
NM_024642.5(GALNT12):c.126G>T (p.Gly42=)
NM_024642.5(GALNT12):c.1272C>T (p.Asp424=)
NM_024642.5(GALNT12):c.1278G>A (p.Lys426=)
NM_024642.5(GALNT12):c.1285T>C (p.Leu429=)
NM_024642.5(GALNT12):c.1293T>A (p.Thr431=)
NM_024642.5(GALNT12):c.1293T>C (p.Thr431=)
NM_024642.5(GALNT12):c.12C>T (p.Arg4=)
NM_024642.5(GALNT12):c.1308G>A (p.Leu436=)
NM_024642.5(GALNT12):c.1311T>C (p.His437=)
NM_024642.5(GALNT12):c.1323C>T (p.Asp441=)
NM_024642.5(GALNT12):c.132G>A (p.Gly44=) rs1554753771
NM_024642.5(GALNT12):c.1335C>T (p.Phe445=) rs1588455850
NM_024642.5(GALNT12):c.1347C>T (p.Leu449=)
NM_024642.5(GALNT12):c.1354A>C (p.Lys452Gln)
NM_024642.5(GALNT12):c.1356A>G (p.Lys452=)
NM_024642.5(GALNT12):c.1359A>G (p.Gly453=) rs932313497
NM_024642.5(GALNT12):c.136_138delinsAGA (p.Gly46Arg) rs878855093
NM_024642.5(GALNT12):c.1386C>T (p.Asn462=)
NM_024642.5(GALNT12):c.138G>C (p.Gly46=)
NM_024642.5(GALNT12):c.138G>T (p.Gly46=)
NM_024642.5(GALNT12):c.1392C>G (p.Pro464=) rs35616709
NM_024642.5(GALNT12):c.1392C>T (p.Pro464=) rs35616709
NM_024642.5(GALNT12):c.1395T>C (p.Asp465=) rs1588458080
NM_024642.5(GALNT12):c.13A>G (p.Thr5Ala)
NM_024642.5(GALNT12):c.141T>A (p.Ala47=)
NM_024642.5(GALNT12):c.1428G>C (p.Leu476=) rs1249449878
NM_024642.5(GALNT12):c.1431C>T (p.Tyr477=)
NM_024642.5(GALNT12):c.1434C>G (p.Leu478=)
NM_024642.5(GALNT12):c.1434C>T (p.Leu478=)
NM_024642.5(GALNT12):c.1440T>C (p.His480=) rs772369577
NM_024642.5(GALNT12):c.1443G>C (p.Gly481=) rs925008420
NM_024642.5(GALNT12):c.1449C>G (p.Gly483=)
NM_024642.5(GALNT12):c.144C>T (p.Ala48=)
NM_024642.5(GALNT12):c.147G>A (p.Glu49=)
NM_024642.5(GALNT12):c.1482A>G (p.Lys494=) rs1588459511
NM_024642.5(GALNT12):c.1509T>C (p.Pro503=)
NM_024642.5(GALNT12):c.150G>A (p.Pro50=)
NM_024642.5(GALNT12):c.1524T>C (p.Ala508=)
NM_024642.5(GALNT12):c.1527G>T (p.Val509=)
NM_024642.5(GALNT12):c.1533A>G (p.Ala511=) rs2118505120
NM_024642.5(GALNT12):c.1538T>C (p.Met513Thr)
NM_024642.5(GALNT12):c.153A>C (p.Gly51=)
NM_024642.5(GALNT12):c.153A>G (p.Gly51=)
NM_024642.5(GALNT12):c.1550T>C (p.Ile517Thr)
NM_024642.5(GALNT12):c.1564G>A (p.Glu522Lys) rs200303625
NM_024642.5(GALNT12):c.1564G>C (p.Glu522Gln)
NM_024642.5(GALNT12):c.156C>G (p.Pro52=)
NM_024642.5(GALNT12):c.156C>T (p.Pro52=)
NM_024642.5(GALNT12):c.1573G>A (p.Ala525Thr)
NM_024642.5(GALNT12):c.159G>T (p.Pro53=)
NM_024642.5(GALNT12):c.15G>A (p.Thr5=) rs1588436041
NM_024642.5(GALNT12):c.1608T>C (p.Asp536=) rs1588461285
NM_024642.5(GALNT12):c.162C>T (p.Arg54=)
NM_024642.5(GALNT12):c.1650T>A (p.Ala550=)
NM_024642.5(GALNT12):c.165C>A (p.Thr55=)
NM_024642.5(GALNT12):c.165C>G (p.Thr55=) rs937292083
NM_024642.5(GALNT12):c.1664C>T (p.Ser555Leu) rs761631783
NM_024642.5(GALNT12):c.1665G>A (p.Ser555=)
NM_024642.5(GALNT12):c.1668T>C (p.Ser556=)
NM_024642.5(GALNT12):c.1683A>G (p.Pro561=)
NM_024642.5(GALNT12):c.1686C>T (p.Leu562=)
NM_024642.5(GALNT12):c.168G>T (p.Pro56=)
NM_024642.5(GALNT12):c.1690C>A (p.Arg564=) rs200145205
NM_024642.5(GALNT12):c.1695C>T (p.Asp565=)
NM_024642.5(GALNT12):c.1707G>A (p.Ser569=) rs2273846
NM_024642.5(GALNT12):c.1707G>T (p.Ser569=) rs2273846
NM_024642.5(GALNT12):c.171C>A (p.Arg57=)
NM_024642.5(GALNT12):c.1728C>T (p.Phe576=)
NM_024642.5(GALNT12):c.173C>T (p.Pro58Leu)
NM_024642.5(GALNT12):c.174C>T (p.Pro58=)
NM_024642.5(GALNT12):c.177G>C (p.Gly59=)
NM_024642.5(GALNT12):c.189G>T (p.Pro63=) rs1588436237
NM_024642.5(GALNT12):c.193A>C (p.Met65Leu) rs1179298414
NM_024642.5(GALNT12):c.193A>T (p.Met65Leu) rs1179298414
NM_024642.5(GALNT12):c.198G>A (p.Pro66=)
NM_024642.5(GALNT12):c.19C>A (p.Arg7=)
NM_024642.5(GALNT12):c.201G>T (p.Arg67=)
NM_024642.5(GALNT12):c.204G>T (p.Pro68=)
NM_024642.5(GALNT12):c.21G>C (p.Arg7=)
NM_024642.5(GALNT12):c.222G>C (p.Ala74=)
NM_024642.5(GALNT12):c.228C>A (p.Gly76=)
NM_024642.5(GALNT12):c.228C>G (p.Gly76=)
NM_024642.5(GALNT12):c.228C>T (p.Gly76=)
NM_024642.5(GALNT12):c.231G>T (p.Ala77=) rs2118257266
NM_024642.5(GALNT12):c.234G>A (p.Arg78=)
NM_024642.5(GALNT12):c.237C>A (p.Gly79=)
NM_024642.5(GALNT12):c.249G>A (p.Arg83=)
NM_024642.5(GALNT12):c.261G>A (p.Gln87=)
NM_024642.5(GALNT12):c.271C>T (p.Leu91=)
NM_024642.5(GALNT12):c.273G>A (p.Leu91=)
NM_024642.5(GALNT12):c.27C>T (p.Arg9=) rs1476231046
NM_024642.5(GALNT12):c.300G>A (p.Leu100=)
NM_024642.5(GALNT12):c.309T>C (p.Ile103=)
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
NM_024642.5(GALNT12):c.324C>T (p.Ser108=)
NM_024642.5(GALNT12):c.336A>C (p.Ser112=)
NM_024642.5(GALNT12):c.339G>A (p.Leu113=) rs1269120223
NM_024642.5(GALNT12):c.348C>T (p.Arg116=)
NM_024642.5(GALNT12):c.349C>T (p.Leu117=)
NM_024642.5(GALNT12):c.354C>G (p.Pro118=) rs538612614
NM_024642.5(GALNT12):c.354C>T (p.Pro118=)
NM_024642.5(GALNT12):c.357G>A (p.Glu119=) rs2118258548
NM_024642.5(GALNT12):c.369G>A (p.Pro123=) rs1296776010
NM_024642.5(GALNT12):c.369G>T (p.Pro123=)
NM_024642.5(GALNT12):c.36G>A (p.Arg12=)
NM_024642.5(GALNT12):c.372-4G>T
NM_024642.5(GALNT12):c.381G>A (p.Glu127=)
NM_024642.5(GALNT12):c.390T>C (p.Tyr130=)
NM_024642.5(GALNT12):c.396T>C (p.Tyr132=)
NM_024642.5(GALNT12):c.399T>C (p.Asp133=) rs1588444640
NM_024642.5(GALNT12):c.40C>T (p.Leu14=)
NM_024642.5(GALNT12):c.414A>G (p.Thr138=) rs1588444656
NM_024642.5(GALNT12):c.417T>A (p.Ser139=)
NM_024642.5(GALNT12):c.43C>A (p.Arg15=) rs1588436068
NM_024642.5(GALNT12):c.453T>C (p.Thr151=)
NM_024642.5(GALNT12):c.462G>A (p.Arg154=)
NM_024642.5(GALNT12):c.477C>T (p.Val159=)
NM_024642.5(GALNT12):c.489C>A (p.Ser163=)
NM_024642.5(GALNT12):c.492G>A (p.Pro164=)
NM_024642.5(GALNT12):c.513G>A (p.Val171=)
NM_024642.5(GALNT12):c.513G>C (p.Val171=)
NM_024642.5(GALNT12):c.543G>A (p.Glu181=)
NM_024642.5(GALNT12):c.570G>A (p.Glu190=)
NM_024642.5(GALNT12):c.576G>A (p.Ser192=) rs780652927
NM_024642.5(GALNT12):c.576G>C (p.Ser192=) rs780652927
NM_024642.5(GALNT12):c.597G>C (p.Leu199=) rs774413342
NM_024642.5(GALNT12):c.600C>A (p.Ile200=)
NM_024642.5(GALNT12):c.603C>T (p.Arg201=) rs1202870372
NM_024642.5(GALNT12):c.606C>T (p.Ala202=) rs1060504771
NM_024642.5(GALNT12):c.609C>T (p.Asn203=)
NM_024642.5(GALNT12):c.615A>G (p.Arg205=)
NM_024642.5(GALNT12):c.635G>C (p.Arg212Pro) rs777425926
NM_024642.5(GALNT12):c.642G>T (p.Leu214=)
NM_024642.5(GALNT12):c.645G>A (p.Gly215=)
NM_024642.5(GALNT12):c.648G>T (p.Ala216=)
NM_024642.5(GALNT12):c.653C>T (p.Ala218Val)
NM_024642.5(GALNT12):c.654G>T (p.Ala218=)
NM_024642.5(GALNT12):c.657G>T (p.Ala219=)
NM_024642.5(GALNT12):c.663C>T (p.Gly221=)
NM_024642.5(GALNT12):c.670C>T (p.Leu224=)
NM_024642.5(GALNT12):c.702C>T (p.His234=) rs760069331
NM_024642.5(GALNT12):c.720G>A (p.Pro240=)
NM_024642.5(GALNT12):c.720G>T (p.Pro240=)
NM_024642.5(GALNT12):c.721C>T (p.Leu241=)
NM_024642.5(GALNT12):c.724C>T (p.Leu242=)
NM_024642.5(GALNT12):c.732G>A (p.Arg244=)
NM_024642.5(GALNT12):c.741A>G (p.Glu247=) rs1588449812
NM_024642.5(GALNT12):c.753A>C (p.Ala251=)
NM_024642.5(GALNT12):c.756G>C (p.Val252=) rs1564255781
NM_024642.5(GALNT12):c.756G>T (p.Val252=)
NM_024642.5(GALNT12):c.762C>T (p.Cys254=)
NM_024642.5(GALNT12):c.774T>C (p.Asp258=)
NM_024642.5(GALNT12):c.780C>T (p.Ile260=)
NM_024642.5(GALNT12):c.783C>T (p.Asp261=)
NM_024642.5(GALNT12):c.795C>T (p.Phe265=)
NM_024642.5(GALNT12):c.801C>T (p.Tyr267=)
NM_024642.5(GALNT12):c.802C>T (p.Leu268=)
NM_024642.5(GALNT12):c.804G>T (p.Leu268=) rs2118414221
NM_024642.5(GALNT12):c.807G>C (p.Gly269=) rs1400950638
NM_024642.5(GALNT12):c.813C>A (p.Ser271=)
NM_024642.5(GALNT12):c.819G>A (p.Glu273=)
NM_024642.5(GALNT12):c.828C>A (p.Ile276=) rs768925908
NM_024642.5(GALNT12):c.828C>T (p.Ile276=) rs768925908
NM_024642.5(GALNT12):c.846G>A (p.Arg282=)
NM_024642.5(GALNT12):c.849G>T (p.Leu283=) rs1445593756
NM_024642.5(GALNT12):c.852G>A (p.Val284=)
NM_024642.5(GALNT12):c.858G>A (p.Thr286=) rs202039153
NM_024642.5(GALNT12):c.864C>T (p.His288=)
NM_024642.5(GALNT12):c.876G>A (p.Glu292=)
NM_024642.5(GALNT12):c.891G>C (p.Arg297=)
NM_024642.5(GALNT12):c.896A>G (p.Gln299Arg)
NM_024642.5(GALNT12):c.900C>A (p.Ser300=)
NM_024642.5(GALNT12):c.900C>T (p.Ser300=)
NM_024642.5(GALNT12):c.903C>G (p.Pro301=) rs191834824
NM_024642.5(GALNT12):c.903C>T (p.Pro301=) rs191834824
NM_024642.5(GALNT12):c.921T>C (p.Ser307=)
NM_024642.5(GALNT12):c.936T>A (p.Gly312=)
NM_024642.5(GALNT12):c.939G>T (p.Gly313=)
NM_024642.5(GALNT12):c.945T>C (p.Phe315=)
NM_024642.5(GALNT12):c.960A>G (p.Lys320=)
NM_024642.5(GALNT12):c.973C>T (p.Leu325=)
NM_024642.5(GALNT12):c.978G>A (p.Gly326=)
NM_024642.5(GALNT12):c.978G>T (p.Gly326=) rs1588452482
NM_024642.5(GALNT12):c.990A>G (p.Thr330=)
NM_024642.5(GALNT12):c.9G>T (p.Gly3=)

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