ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of serine family metabolism by Natera, Inc.

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn) rs763471932 0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser) rs375850752 0.00010
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434 0.00010
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala) rs773642256 0.00009
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser) rs1004754180 0.00008
NM_000170.3(GLDC):c.1732A>C (p.Asn578His) rs770315107 0.00007
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr) rs775834004 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg) rs766244892 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.1926G>A (p.Thr642=) rs772101467 0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val) rs139300551 0.00004
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly) rs778000679 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu) rs201400089 0.00004
NM_000481.4(AMT):c.148G>C (p.Val50Leu) rs148917929 0.00004
NM_000481.4(AMT):c.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 0.00004
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002 0.00004
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu) rs779138019 0.00003
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu) rs375497905 0.00003
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met) rs141153261 0.00003
NM_000170.3(GLDC):c.2137G>A (p.Val713Met) rs912659426 0.00003
NM_000170.3(GLDC):c.227G>C (p.Arg76Thr) rs143358660 0.00003
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.2926G>A (p.Val976Met) rs150624881 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn) rs752952950 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_006623.4(PHGDH):c.718G>A (p.Val240Met) rs765276824 0.00003
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser) rs372136194 0.00002
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala) rs751588571 0.00002
NM_000170.3(GLDC):c.1580+5G>C rs764790596 0.00002
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445 0.00002
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu) rs201997592 0.00002
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr) rs143653301 0.00002
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu) rs769035358 0.00002
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser) rs559923220 0.00002
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr) rs149336868 0.00002
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr) rs761921284 0.00002
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser) rs769609020 0.00002
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp) rs775324601 0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.584T>C (p.Val195Ala) rs752740839 0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485 0.00002
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met) rs773221019 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln) rs138129131 0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp) rs769583276 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr) rs754119942 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00001
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile) rs772777667 0.00001
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val) rs779980470 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr) rs763854673 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2202+6A>G rs368418946 0.00001
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly) rs569728662 0.00001
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990 0.00001
NM_000170.3(GLDC):c.255+5G>T rs372569318 0.00001
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063 0.00001
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met) rs749852046 0.00001
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr) rs769606225 0.00001
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala) rs554230348 0.00001
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala) rs550514750 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.346A>G (p.Ile116Val) rs1010145706 0.00001
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr) rs1333702002 0.00001
NM_000170.3(GLDC):c.374G>A (p.Ser125Asn) rs1311286011 0.00001
NM_000170.3(GLDC):c.437C>T (p.Thr146Met) rs376578742 0.00001
NM_000170.3(GLDC):c.544A>G (p.Met182Val) rs541691467 0.00001
NM_000170.3(GLDC):c.589C>G (p.Leu197Val) rs1461615694 0.00001
NM_000170.3(GLDC):c.637C>A (p.His213Asn) rs1210682949 0.00001
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly) rs140411475 0.00001
NM_000170.3(GLDC):c.662T>C (p.Val221Ala) rs1313892401 0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 0.00001
NM_000481.4(AMT):c.158C>T (p.Ala53Val) rs746916262 0.00001
NM_000481.4(AMT):c.173C>T (p.Pro58Leu) rs1008341193 0.00001
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.59C>T (p.Pro20Leu) rs749087037 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.982G>A (p.Ala328Thr) rs765464808 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro) rs750124525 0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His) rs776544484 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_000170.3(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr) rs1819723104
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu) rs375497905
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp) rs1200000126
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu) rs762761551
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg) rs1819719916
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu) rs754670348
NM_000170.3(GLDC):c.234G>C (p.Met78Ile) rs1282813808
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp) rs1271552143
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly) rs1817224032
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn) rs778913771
NM_000170.3(GLDC):c.2839-3C>T rs1252272018
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513
NM_000170.3(GLDC):c.2876A>G (p.His959Arg) rs572523552
NM_000170.3(GLDC):c.2919C>G (p.Leu973=) rs113736090
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys) rs1819702080
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.624G>T (p.Gln208His) rs1385183318
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu) rs907616957
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg) rs566939288
NM_000170.3(GLDC):c.861+5G>A rs192663616
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000481.4(AMT):c.-1749G>C rs1416250958
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1138G>A (p.Val380Met) rs1306590343
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.339+3G>T rs752570901
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.643G>C (p.Val215Leu) rs1030915796
NM_000481.4(AMT):c.70C>T (p.Arg24Cys) rs371656220
NM_000481.4(AMT):c.856G>A (p.Gly286Ser) rs778159864
NM_000481.4(AMT):c.877+4A>T rs2049049249
NM_000481.4(AMT):c.959G>T (p.Arg320Leu) rs121964985
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.505A>T (p.Met169Leu) rs776977023
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val) rs1571010631
NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu) rs1650720374

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