ClinVar Miner

List of variants reported as uncertain significance for prostate cancer by Science for Life laboratory, Karolinska Institutet

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 407
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HGVS dbSNP gnomAD frequency
NM_001290208.3(ZNF717):c.1228C>G (p.Leu410Val) rs193921040 0.03372
NM_001395159.1(UNC79):c.4394C>T (p.Thr1465Met) rs34816083 0.00084
NM_024704.5(KIF16B):c.1979G>A (p.Arg660His) rs138901840 0.00040
NM_001290268.2(RIPOR3):c.67G>A (p.Val23Met) rs141033220 0.00039
NM_031485.4(GRWD1):c.593G>A (p.Arg198Gln) rs147327994 0.00022
NM_001793.6(CDH3):c.235G>A (p.Glu79Lys) rs193921054 0.00015
NM_005392.4(PHF2):c.2563G>A (p.Asp855Asn) rs193921057 0.00015
NM_019842.4(KCNQ5):c.2110G>A (p.Ala704Thr) rs148543637 0.00013
NM_001242898.2(PPP6R2):c.2350C>T (p.Arg784Trp) rs193920858 0.00011
NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln) rs188700676 0.00011
NM_152501.5(PYHIN1):c.602G>A (p.Arg201His) rs193920831 0.00011
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002847.5(PTPRN2):c.2339T>C (p.Leu780Pro) rs193920806 0.00009
NM_005560.6(LAMA5):c.2479C>T (p.Arg827Cys) rs193920947 0.00009
NM_001010903.5(BNIP5):c.1447C>T (p.Arg483Trp) rs193920980 0.00006
NM_001040105.2(MUC17):c.8950G>A (p.Glu2984Lys) rs193920784 0.00006
NM_001291867.2(NHS):c.2204G>A (p.Arg735His) rs193921046 0.00006
NM_004385.5(VCAN):c.8053G>A (p.Val2685Ile) rs59948995 0.00006
NM_006774.5(INMT):c.625C>T (p.Arg209Cys) rs193920790 0.00006
NM_024704.5(KIF16B):c.1588G>A (p.Val530Met) rs193920855 0.00006
NM_052918.5(SORCS1):c.3371+126C>T rs193920991 0.00006
NM_138778.5(DPH7):c.932A>G (p.Asn311Ser) rs193920785 0.00006
NM_003243.5(TGFBR3):c.2519C>T (p.Thr840Met) rs193920827 0.00005
NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg) rs193920995 0.00004
NM_002337.4(LRPAP1):c.347A>G (p.Asn116Ser) rs34897511 0.00004
NM_015062.5(PPRC1):c.904A>G (p.Ile302Val) rs193920990 0.00004
NM_018303.6(EXOC2):c.1241G>A (p.Arg414His) rs145867129 0.00004
NM_018310.4(BRF2):c.277G>A (p.Ala93Thr) rs142395337 0.00004
NM_021008.4(DEAF1):c.1526G>A (p.Arg509Gln) rs193920740 0.00004
NM_022481.6(ARAP3):c.2806C>T (p.Arg936Trp) rs145752053 0.00004
NM_024870.4(PREX2):c.1444-4G>A rs193920825 0.00004
NM_025113.5(RUBCNL):c.1141C>T (p.Arg381Ter) rs193920942 0.00004
NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu) rs193920826 0.00004
NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn) rs193920904 0.00003
NM_001134658.3(SLC35G1):c.427G>A (p.Ala143Thr) rs144043787 0.00003
NM_001612.6(ACRV1):c.623C>T (p.Thr208Ile) rs193921098 0.00003
NM_002829.4(PTPN3):c.632C>T (p.Ala211Val) rs193920798 0.00003
NM_021186.5(ZP4):c.214G>A (p.Asp72Asn) rs193920872 0.00003
NM_080746.3(RPL10L):c.94C>T (p.Arg32Cys) rs193920822 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 0.00003
NM_152792.4(ASPRV1):c.-158C>T rs184561703 0.00003
NM_207361.6(FREM2):c.3497G>A (p.Arg1166His) rs193921142 0.00003
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082 0.00002
NM_000845.3(GRM8):c.2554C>T (p.Arg852Cys) rs139289550 0.00002
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys) rs193921002 0.00002
NM_001033578.3(SGK3):c.782A>G (p.His261Arg) rs193920898 0.00002
NM_001039372.4(HEPACAM2):c.80-41G>A rs193921119 0.00002
NM_001323032.3(SV2B):c.1537C>T (p.Arg513Trp) rs193920952 0.00002
NM_002253.4(KDR):c.2360G>A (p.Arg787Gln) rs193921127 0.00002
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His) rs193920818 0.00002
NM_003739.6(AKR1C3):c.27G>T (p.Lys9Asn) rs193920842 0.00002
NM_012295.4(CABIN1):c.3907G>A (p.Glu1303Lys) rs193920999 0.00002
NM_014289.4(CAPN6):c.1757G>A (p.Arg586Gln) rs193921059 0.00002
NM_173728.4(ARHGEF15):c.1897C>T (p.Arg633Trp) rs193921031 0.00002
NM_178468.6(FAM83C):c.863G>A (p.Arg288His) rs193920940 0.00002
NM_181808.4(POLN):c.2267G>A (p.Arg756Gln) rs193920976 0.00002
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_001001966.2(OR14A16):c.341C>T (p.Thr114Met) rs193920961 0.00001
NM_001004459.2(OR1S2):c.463A>G (p.Ile155Val) rs193921006 0.00001
NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met) rs193920780 0.00001
NM_001007525.5(NWD1):c.3668A>G (p.Asn1223Ser) rs193920843 0.00001
NM_001007561.3(IRGQ):c.1795G>A (p.Gly599Ser) rs193920821 0.00001
NM_001025231.3(KPRP):c.743G>A (p.Arg248His) rs193921023 0.00001
NM_001029884.3(PLEKHG1):c.2293C>T (p.Arg765Trp) rs193920959 0.00001
NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val) rs193920773 0.00001
NM_001127392.3(MYRF):c.1256C>T (p.Thr419Met) rs193921094 0.00001
NM_001191057.4(PDE1C):c.335G>A (p.Arg112Gln) rs193921048 0.00001
NM_001198950.3(MYO16):c.3494T>G (p.Leu1165Trp) rs193921058 0.00001
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys) rs193920932 0.00001
NM_001906.6(CTRB1):c.633C>T (p.Gly211=) rs193920783 0.00001
NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys) rs150063446 0.00001
NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg) rs193920767 0.00001
NM_003488.4(AKAP1):c.239A>G (p.Lys80Arg) rs148312142 0.00001
NM_003722.5(TP63):c.677G>A (p.Arg226His) rs193921145 0.00001
NM_004962.5(GDF10):c.1217C>T (p.Ala406Val) rs140410142 0.00001
NM_005441.3(CHAF1B):c.862A>G (p.Thr288Ala) rs193921141 0.00001
NM_005732.4(RAD50):c.1513A>G (p.Ile505Val) rs193921012 0.00001
NM_014649.3(SAFB2):c.1367C>T (p.Ser456Leu) rs193920906 0.00001
NM_014766.5(SCRN1):c.1223C>T (p.Thr408Met) rs193920979 0.00001
NM_015419.4(MXRA5):c.5788G>A (p.Ala1930Thr) rs193920874 0.00001
NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile) rs193921029 0.00001
NM_016179.4(TRPC4):c.523C>T (p.Arg175Cys) rs193920981 0.00001
NM_016247.4(IMPG2):c.1265C>T (p.Pro422Leu) rs193920760 0.00001
NM_020856.4(TSHZ3):c.1181C>T (p.Ser394Leu) rs193921027 0.00001
NM_022163.4(MRPL46):c.289C>T (p.Arg97Ter) rs193920884 0.00001
NM_022785.4(EFCAB6):c.314C>T (p.Pro105Leu) rs193920984 0.00001
NM_024012.4(HTR5A):c.79G>C (p.Asp27His) rs193920930 0.00001
NM_030782.5(CLPTM1L):c.749G>A (p.Arg250His) rs193920801 0.00001
NM_030904.2(OR2T1):c.-18G>A rs193920936 0.00001
NM_031272.5(TEX14):c.3172-1908C>T rs193920796 0.00001
NM_032383.5(HPS3):c.1509+6C>G rs193920800 0.00001
NM_033004.4(NLRP1):c.2818C>T (p.Arg940Ter) rs193920788 0.00001
NM_054106.1(OR5AC2):c.730G>A (p.Gly244Ser) rs193920759 0.00001
NM_133473.4(ZNF431):c.1021G>A (p.Glu341Lys) rs193921015 0.00001
NM_144685.5(HIPK4):c.1279G>A (p.Asp427Asn) rs193920880 0.00001
NM_153021.5(PLB1):c.3195+7C>A rs193921064 0.00001
NM_176889.4(TAS2R20):c.254C>G (p.Ser85Cys) rs193920802 0.00001
NM_182932.3(SLC8A3):c.1690G>A (p.Val564Ile) rs76086886 0.00001
NM_000093.5(COL5A1):c.3055C>G (p.Pro1019Ala) rs193920927
NM_000110.4(DPYD):c.1340-3C>G rs193920862
NM_000130.5(F5):c.2127G>A (p.Met709Ile) rs193920869
NM_000176.3(NR3C1):c.1244G>T (p.Gly415Val) rs193921137
NM_000181.4(GUSB):c.1253T>G (p.Phe418Cys) rs193920810
NM_000226.4(KRT9):c.1141G>T (p.Glu381Ter) rs193920878
NM_000283.4(PDE6B):c.1401+8_1401+9insA rs193920816
NM_000322.5(PRPH2):c.997G>A (p.Glu333Lys) rs193921105
NM_000325.6(PITX2):c.580G>A (p.Ala194Thr) rs193920830
NM_000346.4(SOX9):c.61G>A (p.Ala21Thr) rs193920972
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe) rs193921045
NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe) rs193920835
NM_000506.5(F2):c.734del (p.Leu245fs) rs193920779
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000554.6(CRX):c.107C>A (p.Pro36His) rs193920917
NM_000701.8(ATP1A1):c.464C>T (p.Ser155Leu) rs193920762
NM_000868.4(HTR2C):c.502C>T (p.Arg168Trp) rs193920954
NM_000876.4(IGF2R):c.3670+2T>C rs193920850
NM_000888.5(ITGB6):c.1460G>A (p.Gly487Glu) rs193920975
NM_001004470.3(ST8SIA6):c.344G>T (p.Trp115Leu) rs193920832
NM_001004699.3(OR2Z1):c.878G>T (p.Arg293Met) rs193921073
NM_001004738.2(OR5L1):c.494G>T (p.Arg165Met) rs193921144
NM_001005202.2(OR8K3):c.700C>A (p.Gln234Lys) rs193920753
NM_001005279.3(OR6K2):c.947G>T (p.Arg316Ile) rs193920807
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu) rs193921065
NM_001008938.4(CKAP5):c.721A>G (p.Lys241Glu) rs193921076
NM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr) rs193921120
NM_001009925.2(TMEM230):c.152T>C (p.Val51Ala) rs193920937
NM_001012302.3(ANO9):c.2046C>G (p.Asp682Glu) rs193920739
NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu) rs193920890
NM_001029864.2(KIAA1755):c.3089G>T (p.Gly1030Val) rs193920749
NM_001032221.6(STXBP1):c.587A>G (p.Lys196Arg) rs193921042
NM_001034954.3(SORBS1):c.3140G>C (p.Arg1047Pro) rs193920900
NM_001041.4(SI):c.2094C>A (p.Phe698Leu) rs193921060
NM_001063.4(TF):c.1069G>T (p.Glu357Ter) rs193921099
NM_001080.3(ALDH5A1):c.1608G>C (p.Ter536Tyr) rs193920892
NM_001102564.3(IFT43):c.21G>T (p.Leu7Phe) rs193921095
NM_001127173.3(CADM3):c.382G>C (p.Gly128Arg) rs193920866
NM_001127258.3(HHIPL1):c.1471G>C (p.Gly491Arg) rs193920989
NM_001128840.3(CACNA1D):c.3483del (p.Glu1162fs) rs193920795
NM_001130021.3(ATP6V0A1):c.1023+1G>T rs193920983
NM_001136049.3(LMLN):c.1093G>T (p.Gly365Cys) rs193920933
NM_001142565.3(CPSF7):c.523+2dup rs193920985
NM_001143688.3(DIS3L):c.3089G>A (p.Gly1030Glu) rs193920782
NM_001143938.3(ZNF534):c.13C>A (p.Gln5Lys) rs193921143
NM_001144068.2(ZNF772):c.10_11insGGC (p.Ala4delinsGlyPro) rs193920834
NM_001146312.3(MYOCD):c.2678del (p.Lys893fs) rs193920964
NM_001167856.3(SBNO1):c.132+4A>C rs193920847
NM_001168221.2(C2CD6):c.5255T>C (p.Leu1752Ser) rs193920769
NM_001184785.2(PARD3):c.572G>T (p.Cys191Phe) rs193920777
NM_001184785.2(PARD3):c.573C>G (p.Cys191Trp) rs193920776
NM_001184785.2(PARD3):c.684G>A (p.Met228Ile) rs193921017
NM_001191061.2(SLC25A22):c.178G>T (p.Glu60Ter) rs193920962
NM_001199823.3(NEDD8-MDP1):c.451C>G (p.Leu151Val) rs193921062
NM_001206927.2(DNAH8):c.3333+7A>G rs193921092
NM_001214909.2(ZNF48):c.1624C>T (p.Pro542Ser) rs193921000
NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr) rs193921033
NM_001243787.2(SMUG1):c.285+5A>T rs193921126
NM_001248.4(ENTPD3):c.812T>A (p.Phe271Tyr) rs193921050
NM_001251845.2(TRPC1):c.970C>T (p.Gln324Ter) rs193920786
NM_001253697.2(ERBIN):c.3878A>T (p.Tyr1293Phe) rs193921009
NM_001256732.3(SSBP2):c.743A>T (p.Tyr248Phe) rs193920757
NM_001271.4(CHD2):c.2T>C (p.Met1Thr) rs193920953
NM_001281956.2(CSMD2):c.7808G>T (p.Arg2603Leu) rs193921034
NM_001286201.2(RERGL):c.412C>A (p.Gln138Lys) rs193920908
NM_001286574.2(ARMC12):c.601G>T (p.Asp201Tyr) rs193921111
NM_001288990.3(TSNAXIP1):c.1756G>A (p.Ala586Thr) rs193921053
NM_001291415.2(KDM6A):c.4190del (p.Thr1397fs) rs193921028
NM_001291415.2(KDM6A):c.453dup (p.Ala152fs) rs193920970
NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn) rs193921063
NM_001321645.3(ZNF224):c.1354G>A (p.Gly452Arg) rs193921003
NM_001324445.2(ADAT1):c.674C>G (p.Pro225Arg) rs193920811
NM_001346252.4(USP28):c.571C>T (p.Leu191Phe) rs193920846
NM_001346311.2(ATG13):c.1576-1G>C rs193920809
NM_001347886.2(DNAH3):c.6130C>A (p.His2044Asn) rs193921090
NM_001347969.2(ENOX1):c.759_765del (p.Ser254fs) rs193920792
NM_001347995.2(ENTREP1):c.1163-5del rs193921010
NM_001348323.3(TRIP12):c.850C>A (p.Pro284Thr) rs193921087
NM_001352913.2(PPP2R5C):c.880C>G (p.Leu294Val) rs193920829
NM_001353214.3(DYM):c.1779C>G (p.Ile593Met) rs193921113
NM_001366145.2(TRPM3):c.2815G>A (p.Gly939Arg) rs193921019
NM_001366157.1(WDR49):c.2465C>A (p.Ser822Ter) rs193921101
NM_001372.4(DNAH9):c.3184A>G (p.Ile1062Val) rs193920997
NM_001375524.1(TRRAP):c.8474A>G (p.Gln2825Arg) rs193920828
NM_001377142.1(PLCB4):c.408C>A (p.Phe136Leu) rs193921109
NM_001377265.1(MAPT):c.100G>T (p.Asp34Tyr) rs193920968
NM_001377265.1(MAPT):c.1059G>C (p.Glu353Asp) rs193920969
NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser) rs193920967
NM_001378789.1(CERS3):c.609+7G>T rs193921020
NM_001384657.1(ARHGAP20):c.464T>C (p.Val155Ala) rs193920992
NM_001385562.1(ARPP21):c.1355G>T (p.Gly452Val) rs193920911
NM_001388308.1(KIF12):c.1698-4C>A rs193920925
NM_001391906.1(EIF4G3):c.2710G>T (p.Asp904Tyr) rs193921047
NM_001393499.1(BICRAL):c.1778A>G (p.Lys593Arg) rs193921035
NM_001394062.1(MACF1):c.1508G>C (p.Arg503Thr) rs193920913
NM_001496.4(GFRA3):c.1135C>A (p.Pro379Thr) rs193921100
NM_001530.4(HIF1A):c.700G>A (p.Glu234Lys) rs193920781
NM_001684.5(ATP2B4):c.999C>A (p.Asp333Glu) rs193920934
NM_001735.3(C5):c.3286A>G (p.Asn1096Asp) rs193920993
NM_001819.3(CHGB):c.1308A>C (p.Glu436Asp) rs193921088
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001910.4(CTSE):c.319G>A (p.Val107Met) rs193920960
NM_001931.5(DLAT):c.1339T>C (p.Tyr447His) rs193921135
NM_001982.4(ERBB3):c.2802G>C (p.Gln934His) rs193920754
NM_001999.4(FBN2):c.6177A>C (p.Glu2059Asp) rs193920763
NM_002029.4(FPR1):c.772C>T (p.Gln258Ter) rs193920896
NM_002126.5(HLF):c.436dup (p.Ser146fs) rs193920793
NM_002236.5(KCNF1):c.248C>T (p.Pro83Leu) rs193920977
NM_002249.6(KCNN3):c.1448+1G>T rs193920929
NM_002336.3(LRP6):c.3241C>G (p.Pro1081Ala) rs193920743
NM_002472.3(MYH8):c.2339G>T (p.Arg780Ile) rs193920854
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn) rs193921103
NM_002802.3(PSMC1):c.279+8G>A rs193920988
NM_002872.5(RAC2):c.225+1G>A rs193920791
NM_002940.3(ABCE1):c.708T>G (p.Asp236Glu) rs193920849
NM_002960.2(S100A3):c.25G>T (p.Val9Leu) rs193921084
NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn) rs193921093
NM_003235.5(TG):c.3886T>A (p.Phe1296Ile) rs193920926
NM_003325.4(HIRA):c.820G>A (p.Val274Met) rs193920856
NM_003367.4(USF2):c.497G>A (p.Arg166Gln) rs193920819
NM_003437.5(ZNF136):c.883T>G (p.Leu295Val) rs193921014
NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu) rs193920886
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003716.4(CADPS):c.484G>A (p.Ala162Thr) rs193921128
NM_004054.4(C3AR1):c.1148T>C (p.Val383Ala) rs193921139
NM_004138.4(KRT33A):c.215A>G (p.Glu72Gly) rs193921001
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu) rs193920813
NM_004385.5(VCAN):c.4616C>A (p.Pro1539His) rs193920883
NM_004448.4(ERBB2):c.2706G>C (p.Gln902His) rs193920750
NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile) rs193920887
NM_004569.5(PIGH):c.471C>G (p.Phe157Leu) rs193920948
NM_004711.5(SYNGR1):c.483+1398C>T rs193920982
NM_004774.4(MED1):c.632T>G (p.Leu211Arg) rs193921049
NM_004853.3(STX8):c.434A>C (p.Gln145Pro) rs193920742
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe) rs193920755
NM_005015.5(OXA1L):c.1018A>G (p.Thr340Ala) rs193921091
NM_005269.3(GLI1):c.530G>A (p.Cys177Tyr) rs193921005
NM_005353.3(ITGAD):c.2836A>C (p.Lys946Gln) rs193921125
NM_005379.4(MYO1A):c.2887G>A (p.Val963Met) rs193921066
NM_005398.7(PPP1R3C):c.458A>G (p.Gln153Arg) rs193920921
NM_005414.5(SKIL):c.942A>T (p.Arg314Ser) rs193920870
NM_005491.5(MAMLD1):c.*33G>T rs193920839
NM_005618.4(DLL1):c.1711C>A (p.Leu571Met) rs193920766
NM_005656.4(TMPRSS2):c.1222_1223del (p.Gln408fs) rs193920966
NM_005683.4(GPR55):c.941C>T (p.Thr314Ile) rs193920808
NM_005723.4(TSPAN5):c.268C>A (p.Leu90Ile) rs193921080
NM_005762.3(TRIM28):c.2193+3G>T rs193921106
NM_005802.5(TOPORS):c.2808A>C (p.Gln936His) rs193920910
NM_005845.5(ABCC4):c.1645G>T (p.Val549Leu) rs193921134
NM_005884.5(PAK4):c.1504G>C (p.Gly502Arg) rs193920877
NM_005957.5(MTHFR):c.1739del (p.Phe580fs) rs193921032
NM_005961.3(MUC6):c.4382C>T (p.Thr1461Ile) rs148581741
NM_006121.4(KRT1):c.757G>T (p.Asp253Tyr) rs193921116
NM_006157.5(NELL1):c.1666G>T (p.Gly556Ter) rs193920875
NM_006412.4(AGPAT2):c.248del (p.Pro83fs) rs193920848
NM_006517.5(SLC16A2):c.1451G>T (p.Gly484Val) rs193920756
NM_006587.4(CORIN):c.1400C>G (p.Pro467Arg) rs193921036
NM_006639.4(CYSLTR1):c.68del (p.Asn23fs) rs193920986
NM_006790.3(MYOT):c.686G>T (p.Ser229Ile) rs193920888
NM_006833.5(COPS6):c.631A>C (p.Ser211Arg) rs193921011
NM_007002.4(ADRM1):c.653C>A (p.Pro218Gln) rs193921052
NM_007039.4(PTPN21):c.94A>C (p.Asn32His) rs193920899
NM_007067.5(KAT7):c.1687C>T (p.Gln563Ter) rs193921114
NM_007112.5(THBS3):c.1440G>T (p.Gln480His) rs193920931
NM_007203.5(PALM2AKAP2):c.625G>T (p.Glu209Ter) rs193920924
NM_007327.4(GRIN1):c.350C>T (p.Pro117Leu) rs193920837
NM_012090.4(MACF1):c.6753-2_6754delAGAG rs193920778
NM_012301.4(MAGI2):c.1340A>T (p.Asp447Val) rs193920987
NM_012424.6(RPS6KC1):c.3163T>C (p.Phe1055Leu) rs193921071
NM_012426.5(SF3B3):c.1501G>T (p.Gly501Trp) rs193921118
NM_013289.4(KIR3DL1):c.809G>A (p.Arg270His) rs193921077
NM_013340.4(PCDHB1):c.1655T>C (p.Val552Ala) rs193920928
NM_013341.5(OLA1):c.787T>G (p.Phe263Val) rs193920787
NM_013373.4(ZDHHC8):c.1022C>A (p.Ala341Asp) rs193920775
NM_014236.4(GNPAT):c.1935G>C (p.Lys645Asn) rs193920851
NM_014243.3(ADAMTS3):c.64G>T (p.Gly22Ter) rs193921131
NM_014258.4(SYCP2):c.2365-8T>C rs193921008
NM_014320.3(HEBP2):c.125A>G (p.His42Arg) rs193920889
NM_014364.5(GAPDHS):c.1129G>A (p.Asp377Asn) rs193920833
NM_014458.4(KLHL20):c.257del (p.Leu86fs) rs193920902
NM_014639.4(SKIC3):c.140G>C (p.Gly47Ala) rs193920885
NM_014680.5(BLTP2):c.3387G>A (p.Trp1129Ter) rs193920746
NM_014683.4(ULK2):c.514G>T (p.Ala172Ser) rs193921089
NM_014738.6(TMEM94):c.953A>G (p.Gln318Arg) rs193921068
NM_014757.5(MAML1):c.1163G>T (p.Gly388Val) rs193920768
NM_014777.4(URB2):c.1372C>G (p.Gln458Glu) rs193921013
NM_014982.3(PCNX1):c.3049G>T (p.Ala1017Ser) rs193920949
NM_014991.6(WDFY3):c.10260-7C>G rs193920758
NM_014991.6(WDFY3):c.2630C>A (p.Ala877Asp) rs193920805
NM_015057.5(MYCBP2):c.7770G>A (p.Met2590Ile) rs193920951
NM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg) rs193920745
NM_015330.6(SPECC1L):c.464G>T (p.Arg155Leu) rs193920978
NM_015373.4(CBY1):c.346C>G (p.Leu116Val) rs193920893
NM_015691.5(WWC3):c.2464C>A (p.Leu822Met) rs193921110
NM_015868.3(KIR2DL3):c.71-4C>T rs193921051
NM_015938.5(NMD3):c.503C>T (p.Thr168Ile) rs193920996
NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr) rs193920845
NM_016120.4(RLIM):c.260del (p.Asp87fs) rs193920920
NM_016162.4(ING4):c.326C>A (p.Ala109Asp) rs193921122
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr) rs193921097
NM_016382.4(CD244):c.971G>A (p.Arg324Lys) rs193921024
NM_016427.3(ELOA2):c.367T>C (p.Ser123Pro) rs193920804
NM_017632.4(CDKN2AIP):c.914T>G (p.Leu305Arg) rs193921061
NM_017712.4(PGPEP1):c.434G>A (p.Gly145Asp) rs193921074
NM_017864.4(INTS8):c.166del (p.Glu56fs) rs193920861
NM_018078.4(LARP1B):c.1324G>T (p.Asp442Tyr) rs193920764
NM_018090.5(NECAP2):c.462G>T (p.Glu154Asp) rs193921123
NM_018092.5(NETO2):c.1532G>C (p.Arg511Thr) rs193920943
NM_018189.4(DPPA4):c.907T>C (p.Trp303Arg) rs193920923
NM_018358.3(ABCF3):c.1327C>T (p.Arg443Trp) rs143852274
NM_018389.5(SLC35C1):c.556G>A (p.Asp186Asn) rs193920915
NM_018433.6(KDM3A):c.2685+6TGTT[2] rs193921056
NM_018448.5(CAND1):c.737G>A (p.Gly246Asp) rs193921038
NM_018557.3(LRP1B):c.10187G>C (p.Cys3396Ser) rs193920865
NM_018557.3(LRP1B):c.6648G>T (p.Glu2216Asp) rs193921022
NM_018714.3(COG1):c.1348C>T (p.Gln450Ter) rs193921130
NM_018714.3(COG1):c.2125G>A (p.Val709Ile) rs193920973
NM_018901.4(PCDHA10):c.1166C>T (p.Thr389Met) rs193920994
NM_018945.4(PDE7B):c.742C>T (p.Arg248Ter) rs193920799
NM_019030.4(DHX29):c.875A>T (p.Glu292Val) rs193920824
NM_020062.4(SLC2A4RG):c.1060C>A (p.Arg354Ser) rs193920971
NM_020190.5(OLFML3):c.402C>G (p.Asp134Glu) rs193920761
NM_020361.5(CPA6):c.1217G>C (p.Gly406Ala) rs193921039
NM_020382.7(KMT5A):c.290-3C>A rs193920812
NM_020653.4(ZNF287):c.1093G>C (p.Glu365Gln) rs193920744
NM_020657.4(ZNF304):c.1400T>A (p.Ile467Lys) rs193920881
NM_020693.4(DSCAML1):c.2141A>G (p.Asp714Gly) rs193920955
NM_020786.4(PDP2):c.890A>G (p.Asn297Ser) rs193921129
NM_020904.3(PLEKHA4):c.20_28del (p.Arg7_Ser9del) rs193920946
NM_020981.4(B3GALT1):c.543del (p.Phe181fs) rs193920868
NM_021115.5(SEZ6L):c.1515-5G>A rs193920909
NM_021115.5(SEZ6L):c.778G>T (p.Glu260Ter) rs193920876
NM_021163.4(RBAK):c.1602A>T (p.Lys534Asn) rs193921102
NM_021229.4(NTN4):c.823C>T (p.His275Tyr) rs193920922
NM_021616.6(TRIM34):c.-5G>A rs193920907
NM_021815.5(SLC5A7):c.1175C>T (p.Ala392Val) rs193921021
NM_021819.3(LMAN1L):c.1338G>T (p.Lys446Asn) rs193921107
NM_021955.5(GNGT1):c.96+1G>A rs193921133
NM_022045.5(MTBP):c.2380A>G (p.Ile794Val) rs193921136
NM_022080.3(NAPB):c.786+2T>C rs193921124
NM_022119.4(PRSS22):c.806G>A (p.Arg269His) rs193920873
NM_022168.4(IFIH1):c.816A>C (p.Glu272Asp) rs193920867
NM_022169.5(ABCG4):c.237G>T (p.Arg79Ser) rs193920956
NM_022470.4(ZMAT3):c.182G>A (p.Cys61Tyr) rs193920814
NM_022769.5(CRTC3):c.1387C>A (p.Arg463Ser) rs193921108
NM_022828.5(YTHDC2):c.2617C>A (p.Pro873Thr) rs193921121
NM_023015.5(INTS3):c.1700T>C (p.Ile567Thr) rs193920901
NM_023078.6(PYCR3):c.16C>T (p.Pro6Ser) rs193920765
NM_024111.6(CHAC1):c.279G>A (p.Trp93Ter) rs193920914
NM_024603.4(BEND5):c.1210A>G (p.Ile404Val) rs193921115
NM_024691.4(ZNF419):c.73G>T (p.Gly25Cys) rs193920918
NM_025145.7(CFAP43):c.2051A>G (p.His684Arg) rs193921081
NM_030569.7(ITIH5):c.2545G>T (p.Asp849Tyr) rs193920741
NM_030933.4(SHCBP1L):c.881C>A (p.Thr294Lys) rs193921086
NM_031490.5(LONP2):c.471G>T (p.Leu157Phe) rs193920895
NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter) rs193921043
NM_032236.8(USP48):c.1243A>G (p.Met415Val) rs193921025
NM_032511.4(FAXC):c.892C>G (p.Gln298Glu) rs193921041
NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val) rs193921026
NM_033116.6(NEK9):c.1756dup (p.Thr586fs) rs193920844
NM_033257.4(DGCR6L):c.608C>T (p.Pro203Leu) rs193920891
NM_033439.4(IL33):c.712G>A (p.Val238Met) rs193920852
NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp) rs193920840
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu) rs193921083
NM_058192.3(RPUSD1):c.521A>G (p.His174Arg) rs193920771
NM_080817.5(GPR82):c.482G>T (p.Gly161Val) rs193921104
NM_138391.6(TMEM183A):c.708+1G>A rs193920903
NM_138982.4(MAPK10):c.1271G>A (p.Ser424Asn) rs193921096
NM_144587.5(BTBD16):c.82C>T (p.Pro28Ser) rs193920863
NM_145263.4(SPATA18):c.991G>A (p.Val331Ile) rs193921037
NM_147164.3(CNTFR):c.700G>C (p.Asp234His) rs193920748
NM_152453.4(TMCO5A):c.645G>C (p.Lys215Asn) rs193920912
NM_152476.3(ZNF560):c.1096C>A (p.His366Asn) rs193920939
NM_152744.4(SDK1):c.5214+8C>T rs193920905
NM_152753.4(SCUBE3):c.2462C>T (p.Pro821Leu) rs193920941
NM_152868.3(KCNJ4):c.586C>T (p.Arg196Cys) rs193920820
NM_153267.5(MAMDC2):c.58G>A (p.Asp20Asn) rs193920950
NM_153442.4(GPR26):c.71C>T (p.Ala24Val) rs193920957
NM_153703.5(PODN):c.1060G>T (p.Ala354Ser) rs193920794
NM_153766.3(KCNJ1):c.1094A>T (p.Asn365Ile) rs193920958
NM_170692.4(RASAL2):c.3820G>T (p.Glu1274Ter) rs193921085
NM_173517.6(VKORC1L1):c.493G>T (p.Glu165Ter) rs193921078
NM_173531.4(ZNF100):c.407del (p.Gly136fs) rs193921016
NM_173536.4(GABRG1):c.32C>T (p.Pro11Leu) rs193920916
NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp) rs193920965
NM_173558.4(FGD2):c.882+3A>C rs193921018
NM_173632.4(ZNF776):c.574A>C (p.Asn192His) rs193921007
NM_175709.5(CBX7):c.227C>G (p.Pro76Arg) rs193920857
NM_178150.3(FBH1):c.2107C>T (p.Arg703Trp) rs193921138
NM_178556.5(TRIML1):c.1188A>T (p.Lys396Asn) rs193920871
NM_181523.3(PIK3R1):c.1939C>A (p.Leu647Ile) rs193921079
NM_181785.4(SLC46A3):c.1189G>A (p.Val397Ile) rs193920747
NM_181877.4(ZSCAN2):c.1255C>A (p.Gln419Lys) rs193921069
NM_182947.4(ARHGEF25):c.657-7C>A rs193921117
NM_183377.2(ASIC2):c.1129C>A (p.His377Asn) rs193921140
NM_194302.4(CFAP65):c.542+58del rs193920770
NM_198215.4(FAM13C):c.1427T>A (p.Leu476His) rs193920897
NM_198512.3(DGAT2L6):c.769C>A (p.Leu257Met) rs193921067
NM_199191.3(BABAM2):c.626A>G (p.Asp209Gly) rs193920803
NM_199340.5(LRRC37A3):c.3859del (p.Ala1287fs) rs193920919
NM_206933.4(USH2A):c.5837G>T (p.Arg1946Leu) rs193921072
NM_207117.4(SLC25A47):c.56C>T (p.Pro19Leu) rs193920797
NM_213589.3(RAPH1):c.1123G>T (p.Glu375Ter) rs193920935

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