ClinVar Miner

List of variants in gene GNPAT studied for rhizomelic chondrodysplasia punctata

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_014236.4(GNPAT):c.915G>A (p.Glu305=) rs574553 0.58786
NM_014236.4(GNPAT):c.-44C>T rs518686 0.54529
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe) rs113480953 0.01765
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_014236.4(GNPAT):c.-84C>T rs112452735 0.01229
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=) rs35033351 0.01197
NM_014236.4(GNPAT):c.925-17del rs149282848 0.01076
NM_014236.4(GNPAT):c.525A>G (p.Leu175=) rs6659098 0.01020
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) rs142283145 0.00185
NM_014236.4(GNPAT):c.1056-20C>A rs114267453 0.00176
NM_014236.4(GNPAT):c.925-16G>A rs41305723 0.00157
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) rs143205045 0.00110
NM_014236.4(GNPAT):c.65T>C (p.Val22Ala) rs143388851 0.00101
NM_014236.4(GNPAT):c.*45C>T rs190670284 0.00093
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) rs142487190 0.00036
NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser) rs201538200 0.00025
NM_014236.4(GNPAT):c.286G>T (p.Val96Leu) rs139378588 0.00025
NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu) rs757791949 0.00019
NM_014236.4(GNPAT):c.608T>A (p.Met203Lys) rs779199619 0.00019
NM_014236.4(GNPAT):c.1744-13C>T rs188474049 0.00016
NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys) rs200830930 0.00014
NM_014236.4(GNPAT):c.57C>T (p.Ser19=) rs199844062 0.00014
NM_014236.4(GNPAT):c.747T>C (p.Ser249=) rs202033127 0.00014
NM_014236.4(GNPAT):c.1890C>T (p.Asn630=) rs201916449 0.00013
NM_014236.4(GNPAT):c.-47C>A rs201907247 0.00011
NM_014236.4(GNPAT):c.-82G>T rs748285545 0.00007
NM_014236.4(GNPAT):c.1280-8G>A rs776118687 0.00007
NM_014236.4(GNPAT):c.*123A>G rs537905640 0.00006
NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr) rs373497748 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) rs370837823 0.00006
NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile) rs552693336 0.00006
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=) rs151138534 0.00005
NM_014236.4(GNPAT):c.-6C>T rs370992541 0.00004
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=) rs894887033 0.00004
NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) rs748279875 0.00004
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu) rs761578510 0.00002
NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile) rs756465630 0.00002
NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro) rs758663178 0.00002
NM_014236.4(GNPAT):c.798A>G (p.Pro266=) rs371142386 0.00002
NM_014236.4(GNPAT):c.924+4C>T rs372291680 0.00002
NM_014236.4(GNPAT):c.*338A>G rs1313858069 0.00001
NM_014236.4(GNPAT):c.*389G>A rs886046094 0.00001
NM_014236.4(GNPAT):c.*399G>C rs1209530835 0.00001
NM_014236.4(GNPAT):c.1044C>T (p.Asn348=) rs760847656 0.00001
NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu) rs749596302 0.00001
NM_014236.4(GNPAT):c.1428C>T (p.Leu476=) rs1369256964 0.00001
NM_014236.4(GNPAT):c.1488A>G (p.Ala496=) rs886046092 0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) rs121434440 0.00001
NM_014236.4(GNPAT):c.632G>A (p.Arg211His) rs121434439 0.00001
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys) rs1442079596 0.00001
NM_014236.4(GNPAT):c.930G>A (p.Leu310=) rs2296166 0.00001
NM_014236.4(GNPAT):c.*129C>T rs1685755752
NM_014236.4(GNPAT):c.*18T>C rs150776112
NM_014236.4(GNPAT):c.*195C>T rs780763661
NM_014236.4(GNPAT):c.*2A>C rs149641223
NM_014236.4(GNPAT):c.-121C>T rs573141457
NM_014236.4(GNPAT):c.-54A>G rs886046088
NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp) rs886046090
NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)
NM_014236.4(GNPAT):c.1121del (p.Glu374fs)
NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter)
NM_014236.4(GNPAT):c.1279+1G>T
NM_014236.4(GNPAT):c.1280-3T>G rs1571955307
NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)
NM_014236.4(GNPAT):c.1305C>T (p.Val435=)
NM_014236.4(GNPAT):c.1336G>T (p.Ala446Ser)
NM_014236.4(GNPAT):c.1387del (p.Glu463fs)
NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro) rs886046091
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) rs1571955597
NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer) rs749069446
NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)
NM_014236.4(GNPAT):c.1522+15T>C rs200561922
NM_014236.4(GNPAT):c.1575del (p.Phe525fs) rs1571957148
NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs) rs2102825068
NM_014236.4(GNPAT):c.1603-3T>G
NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)
NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)
NM_014236.4(GNPAT):c.1668C>T (p.Ile556=) rs1685638665
NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys) rs1685639021
NM_014236.4(GNPAT):c.1680G>A (p.Glu560=) rs886046093
NM_014236.4(GNPAT):c.1712del (p.Gly571fs)
NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)
NM_014236.4(GNPAT):c.1743+1G>T
NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)
NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)
NM_014236.4(GNPAT):c.1937+5G>A rs1571960363
NM_014236.4(GNPAT):c.1937+9T>A
NM_014236.4(GNPAT):c.2010del (p.Pro671fs)
NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser) rs749833026
NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)
NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)
NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg) rs886046089
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) rs1558331190
NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)
NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter) rs1685194348
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866
NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro) rs865813028
NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)
NM_014236.4(GNPAT):c.544delinsTT (p.Val182fs)
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014236.4(GNPAT):c.574del (p.Leu192fs)
NM_014236.4(GNPAT):c.780del (p.Asn261fs) rs1571950208
NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter)
NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)
NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs) rs1558334625
NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)
NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)
NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)
NM_014236.4(GNPAT):c.925-2del
NM_014236.4(GNPAT):c.954del (p.Glu319fs)

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