ClinVar Miner

List of variants reported as likely pathogenic for not provided by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000429.3(MAT1A):c.527T>A (p.Leu176Gln) rs769846362 0.00009
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter) rs542337286 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg) rs1387867750 0.00002
NM_000047.3(ARSL):c.109C>T (p.Arg37Ter) rs754885040 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_001041.4(SI):c.3266G>A (p.Trp1089Ter) rs774109373 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_001510.4(GRID2):c.1913G>A (p.Trp638Ter) rs1470494014 0.00001
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter) rs1750792951 0.00001
NM_016035.5(COQ4):c.300-2A>G rs141303335 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro) rs1945411643
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) rs2023146719
NM_000088.4(COL1A1):c.3871_3883delinsGT (p.Cys1291fs) rs2144534853
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs) rs2092905757
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) rs2128999992
NM_000552.5(VWF):c.5293G>T (p.Gly1765Ter) rs1268910016
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) rs121912563
NM_000937.5(POLR2A):c.3700A>G (p.Lys1234Glu) rs2150887735
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001031710.3(KLHL7):c.562A>T (p.Lys188Ter) rs2128464395
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter) rs2067084803
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs) rs2151581134
NM_001080453.3(INTS1):c.1855G>T (p.Glu619Ter) rs1456894020
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001134382.3(IQSEC1):c.1470dup (p.Tyr491fs) rs2125304158
NM_001162501.2(TNRC6B):c.4974+2T>C rs2146570387
NM_001163435.3(TBCK):c.2044_2048del (p.Phe682fs) rs778000956
NM_001195553.2(DCX):c.799del (p.Asp267fs) rs2147635206
NM_001282116.2(RFX3):c.973+3A>G
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001287491.2(TET3):c.5062C>G (p.Arg1688Gly) rs2104233612
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001348323.3(TRIP12):c.2996A>T (p.Glu999Val) rs2154270375
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001378418.1(TCF20):c.2512_2515del (p.Asp838fs) rs1601598682
NM_001378418.1(TCF20):c.4943del (p.Thr1648fs) rs1569143903
NM_001384732.1(CPLANE1):c.49A>T (p.Lys17Ter) rs2150867081
NM_001386135.1(AFF3):c.713T>C (p.Met238Thr) rs1682014084
NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs) rs2048501596
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro)
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs) rs765706154
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter) rs749027104
NM_003403.5(YY1):c.690dup (p.Asp231fs) rs759536629
NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg) rs2141156206
NM_003611.3(OFD1):c.1485del (p.Glu496fs) rs2047765952
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_004004.6(GJB2):c.136G>C (p.Asp46His) rs1064797088
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) rs1676113645
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004586.3(RPS6KA3):c.212dup (p.Leu71fs) rs2148732123
NM_005378.6(MYCN):c.963dup (p.Arg322fs) rs2103330798
NM_005392.4(PHF2):c.2749C>T (p.Gln917Ter) rs1826897308
NM_005445.4(SMC3):c.1812+1G>A rs1861198554
NM_005559.4(LAMA1):c.5965C>T (p.Gln1989Ter) rs2144047886
NM_005859.5(PURA):c.350T>C (p.Phe117Ser) rs1763045003
NM_006545.5(NPRL2):c.3G>T (p.Met1Ile) rs1703727528
NM_006922.4(SCN3A):c.4448T>G (p.Ile1483Ser) rs2105636283
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp) rs2147384854
NM_013275.6(ANKRD11):c.1977del (p.Thr658_Tyr659insTer) rs2151761883
NM_013275.6(ANKRD11):c.2777del (p.Lys926fs) rs2151758291
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014806.5(RUSC2):c.910C>T (p.Gln304Ter) rs1821779826
NM_015215.4(CAMTA1):c.2657G>A (p.Gly886Glu) rs2149221544
NM_015215.4(CAMTA1):c.4687C>T (p.Gln1563Ter) rs2150125399
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015937.6(PIGT):c.245_246del (p.Leu82fs) rs2145433134
NM_016580.4(PCDH12):c.309del (p.Cys104fs) rs1753206427
NM_017934.7(PHIP):c.797A>G (p.His266Arg) rs1270288366
NM_019026.6(TMCO1):c.147dup (p.Leu50fs) rs777163859
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020338.4(ZMIZ1):c.2083C>T (p.Leu695Phe) rs1854350169
NM_020436.5(SALL4):c.2078del (p.Val693fs) rs2122962179
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter) rs1430249191
NM_025074.7(FRAS1):c.7522+2_7522+4del rs1719735626
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_032436.4(CHAMP1):c.1166C>G (p.Ser389Ter) rs2139420368
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter) rs1472437659
NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs) rs2065374158
NM_138422.4(ADAT3):c.24_37del (p.Pro10fs) rs752360082
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_170675.5(MEIS2):c.754+2T>C rs1892542522
NM_170784.3(MKKS):c.624_625del (p.Arg208fs) rs762613490
NM_177986.5(DSG4):c.82G>T (p.Glu28Ter) rs756862725
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter) rs138736028
NM_201521.3(KLC4):c.553G>T (p.Glu185Ter) rs1033630760

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