ClinVar Miner

List of variants reported as pathogenic by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_005144.5(HR):c.2776+1G>A rs773764015 0.00003
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter) rs373856119 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) rs104893764 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) rs373520509 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) rs119485090 0.00001
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139 0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln) rs201623252 0.00001
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs) rs1567636493
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter) rs1559423385
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000396.4(CTSK):c.891-1G>T rs1557823855
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) rs1601792367
NM_000481.4(AMT):c.20_21del (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs) rs1562907232
NM_000527.5(LDLR):c.272del (p.Gly91fs) rs1568592055
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) rs2147766937
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) rs1568503938
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) rs1568506608
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001122955.4(BSCL2):c.1006-2A>G rs879254029
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001136035.4(TRMT1):c.1834-7C>T
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs) rs746572548
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001195248.2(APTX):c.638del (p.Leu213fs)
NM_001206744.2(TPO):c.2421del (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.764dup (p.Gly256fs) rs1558307375
NM_001243226.3(TCF4):c.286+1G>A
NM_001291303.3(FAT4):c.11800+1G>T rs963302668
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001377142.1(PLCB4):c.2814+1G>C
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001673.5(ASNS):c.569T>G (p.Leu190Ter) rs1562817048
NM_001673.5(ASNS):c.776-5T>G
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_002024.6(FMR1):c.-128GGC[200_?]
NM_002024.6(FMR1):c.-128GGC[55_200]
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003560.4(PLA2G6):c.1880-9del rs1569243771
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) rs1558898789
NM_004409.5(DMPK):c.*224CTG[110]
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) rs121909083
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs)
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) rs1564096221
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) rs1567648703
NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) rs1572226744
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) rs1561938413
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_021008.4(DEAF1):c.997+4A>C rs886040972
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
NM_032801.5(JAM3):c.230_231del (p.Tyr77fs) rs1942959311
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153252.5(BRWD3):c.3200_3201del (p.Val1067fs) rs1602311804
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_178138.6(LHX3):c.452_454+20del rs587776711
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093

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