ClinVar Miner

List of variants reported as pathogenic by The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.1414C>T (p.Leu472Phe) rs373176089 0.00002
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter) rs768467260 0.00001
NM_000341.4(SLC3A1):c.1332+2T>A rs758627758 0.00001
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter) rs1361526419 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_005585.5(SMAD6):c.1416G>A (p.Trp472Ter) rs1432193098 0.00001
NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter) rs1231501584 0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter) rs759094719 0.00001
NM_014270.5(SLC7A9):c.1399+2dup rs755715459 0.00001
NM_014270.5(SLC7A9):c.525del (p.Ser174_Tyr175insTer) rs1568530415 0.00001
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter) rs2131007486
NM_000267.3(NF1):c.6756+2_6763del rs1597845213
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000341.4(SLC3A1):c.1012-1G>A rs769712061
NM_000341.4(SLC3A1):c.1084C>G (p.Arg362Gly) rs375399468
NM_000341.4(SLC3A1):c.1365del (p.Arg456fs) rs779941675
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000552.5(VWF):c.6963del (p.Glu2322fs) rs2136375523
NM_000642.3(AGL):c.2681+5G>C rs1249689678
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1992dup (p.Ser665fs) rs1597710824
NM_001042492.3(NF1):c.2002-1G>C rs1555613743
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter) rs146624509
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.205-1G>T rs1555605362
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer) rs1597716380
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs) rs1597717684
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs) rs2151461771
NM_001042492.3(NF1):c.4236_4237del (p.Arg1412fs) rs2151461956
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs) rs1597753208
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs) rs1597829913
NM_001042492.3(NF1):c.5130del (p.Cys1711fs) rs1597830078
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs) rs1597830232
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter) rs1597832043
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter) rs1597834760
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs) rs1597840291
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter) rs1555534677
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.643del (p.Ser215fs) rs1597658192
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.731-2A>C rs1555608924
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs) rs1597659879
NM_001042492.3(NF1):c.7898del (p.Glu2633fs) rs1597866854
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001875.5(CPS1):c.1164+2T>C rs2106113312
NM_004991.4(MECOM):c.2905C>T (p.Arg969Cys) rs2148891037
NM_004991.4(MECOM):c.2906G>A (p.Arg969His) rs2148891008
NM_005585.5(SMAD6):c.1010G>A (p.Trp337Ter) rs753110746
NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter) rs2140681185
NM_005585.5(SMAD6):c.1012del (p.Glu338fs) rs2140681173
NM_005585.5(SMAD6):c.106dup (p.Asp36fs) rs1595756416
NM_005585.5(SMAD6):c.1099dup (p.Cys367fs) rs2140681497
NM_005585.5(SMAD6):c.1132G>T (p.Glu378Ter) rs751622656
NM_005585.5(SMAD6):c.1227del (p.Ile410fs) rs2140681839
NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter) rs1894566397
NM_005585.5(SMAD6):c.1305dup (p.Ile436fs) rs1255802415
NM_005585.5(SMAD6):c.1309A>T (p.Lys437Ter) rs746469222
NM_005585.5(SMAD6):c.1324G>T (p.Glu442Ter) rs778302338
NM_005585.5(SMAD6):c.136del (p.Ala46fs) rs2140580751
NM_005585.5(SMAD6):c.1419del (p.Cys475fs) rs1894573824
NM_005585.5(SMAD6):c.165C>A (p.Cys55Ter) rs755868380
NM_005585.5(SMAD6):c.217G>T (p.Gly73Ter) rs1893025235
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) rs1595756640
NM_005585.5(SMAD6):c.231_255del (p.Gly81fs) rs1893025784
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs) rs965061234
NM_005585.5(SMAD6):c.243del (p.Arg82fs) rs2140581013
NM_005585.5(SMAD6):c.24del (p.Leu9fs) rs2140580364
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005585.5(SMAD6):c.269dup (p.Arg91fs) rs1006397889
NM_005585.5(SMAD6):c.283del (p.Glu95fs) rs2140581167
NM_005585.5(SMAD6):c.294del (p.Gly99fs) rs2140581198
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.325del (p.Glu109fs) rs2140581279
NM_005585.5(SMAD6):c.352G>T (p.Glu118Ter) rs1324979905
NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter) rs1160042861
NM_005585.5(SMAD6):c.3dup (p.Phe2fs) rs2140580300
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.439_457dup (p.Ala153fs) rs2140581633
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.511G>A (p.Glu171Lys) rs1893037722
NM_005585.5(SMAD6):c.589del (p.Ser197fs) rs1595757203
NM_005585.5(SMAD6):c.67del (p.Glu23fs) rs1893018000
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005585.5(SMAD6):c.859G>T (p.Glu287Ter) rs570279865
NM_005585.5(SMAD6):c.872del (p.Leu291fs) rs2140596499
NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter) rs1595766210
NM_005585.5(SMAD6):c.957_958insGCAA (p.Ser320fs) rs2140680984
NM_014270.5(SLC7A9):c.1201A>T (p.Lys401Ter) rs760264924
NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro) rs1599688589
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014795.4(ZEB2):c.2717del (p.Pro906fs) rs2149876411
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter) rs2151749755
NM_015426.5(POC1A):c.593_605del (p.Ser198fs) rs1698348226
NM_015426.5(POC1A):c.850dup (p.Glu284fs) rs770990008
NM_015909.4(NBAS):c.4288C>T (p.Gln1430Ter) rs2148233321
NM_020989.4(CRYGC):c.394del (p.Val132fs) rs2105857937
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr) rs1649084282
NM_139058.3(ARX):c.947del (p.Gly316fs) rs2147323625

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