ClinVar Miner

List of variants reported as likely benign by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr) rs117649834 0.03101
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01703
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_152906.7(TANGO2):c.56+219C>G rs186875212 0.00607
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser) rs547565552 0.00316
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001330360.2(POLA1):c.2236T>C (p.Tyr746His) rs2230927 0.00115
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00054
NM_001360016.2(G6PD):c.120+3625G>A rs189237568 0.00052
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_000894.3(LHB):c.364G>A (p.Gly122Ser) rs5030774 0.00030
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg) rs188182890 0.00030
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_212482.4(FN1):c.2896G>A (p.Gly966Arg) rs141400341 0.00021
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln) rs79648977 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp) rs371754365 0.00016
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met) rs376131325 0.00008
NM_001353345.2(SETD1B):c.3584T>C (p.Met1195Thr) rs775815898 0.00007
NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys) rs905177395 0.00007
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_022095.4(ZNF335):c.3868C>T (p.Gln1290Ter) rs770300456 0.00003
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala) rs757885234 0.00002
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) rs1461166570 0.00002
NM_001386298.1(CIC):c.2468A>G (p.Lys823Arg) rs775387226 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_014000.3(VCL):c.239+9T>C rs574769425 0.00002
NM_015100.4(POGZ):c.1313C>A (p.Ser438Tyr) rs749899018 0.00002
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000214.3(JAG1):c.2048G>A (p.Arg683His) rs200929472 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter) rs763067676 0.00001
NM_001142864.4(PIEZO1):c.640G>A (p.Ala214Thr) rs533369230 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001366145.2(TRPM3):c.3245C>A (p.Thr1082Asn) rs1319189898 0.00001
NM_003128.3(SPTBN1):c.1226C>T (p.Ala409Val) rs1678222579 0.00001
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala) rs947001316 0.00001
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser) rs778914291 0.00001
NM_005660.3(SLC35A2):c.274+5G>A rs1060503677 0.00001
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser) rs777670369 0.00001
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000474.4(TWIST1):c.200G>C (p.Gly67Ala)
NM_001007527.2(LMBRD2):c.2076T>G (p.Phe692Leu) rs2111835112
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001042681.2(RERE):c.142A>G (p.Lys48Glu)
NM_001042681.2(RERE):c.3867G>T (p.Met1289Ile)
NM_001123385.2(BCOR):c.473G>C (p.Ser158Thr)
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001134673.4(NFIA):c.647G>C (p.Ser216Thr)
NM_001162501.2(TNRC6B):c.595G>C (p.Glu199Gln)
NM_001171.6(ABCC6):c.2996-7_2996-4del
NM_001193315.2(VIPAS39):c.-1+408G>C
NM_001243226.3(TCF4):c.74del (p.Asn25fs) rs752700752
NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)
NM_001270974.2(HYDIN):c.5855G>A (p.Arg1952Gln)
NM_001303052.2(MYT1L):c.1862A>G (p.Tyr621Cys) rs765731360
NM_001318525.2(TRAPPC2L):c.119A>G (p.Asp40Gly)
NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp) rs2100718483
NM_001348768.2(HECW2):c.82C>T (p.Leu28Phe)
NM_001348800.3(ZBTB20):c.1613A>C (p.Gln538Pro)
NM_001349338.3(FOXP1):c.159C>A (p.His53Gln) rs777378675
NM_001363810.1(VMA21):c.194G>C (p.Gly65Ala)
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001371928.1(AHDC1):c.3547C>G (p.Arg1183Gly)
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn) rs770525695
NM_001376.5(DYNC1H1):c.19G>T (p.Gly7Cys)
NM_001386298.1(CIC):c.4462G>A (p.Gly1488Arg)
NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro) rs757337752
NM_001733.7(C1R):c.1202G>A (p.Arg401His)
NM_001733.7(C1R):c.542A>G (p.Glu181Gly)
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr)
NM_001958.5(EEF1A2):c.866T>C (p.Val289Ala)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)
NM_003076.5(SMARCD1):c.203G>A (p.Arg68Gln)
NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr) rs2120462024
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.14354T>C (p.Met4785Thr)
NM_003482.4(KMT2D):c.14795C>T (p.Pro4932Leu)
NM_004247.4(EFTUD2):c.2389G>T (p.Ala797Ser)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004463.3(FGD1):c.2417G>A (p.Arg806His)
NM_004700.4(KCNQ4):c.227C>G (p.Ala76Gly)
NM_004958.4(MTOR):c.1256A>G (p.His419Arg)
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)
NM_005429.5(VEGFC):c.781G>A (p.Asp261Asn)
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005862.3(STAG1):c.1082G>T (p.Arg361Ile)
NM_005862.3(STAG1):c.1857G>C (p.Gln619His) rs2107730009
NM_006015.6(ARID1A):c.5299_5301delinsCTT (p.Glu1767Leu)
NM_006245.4(PPP2R5D):c.437G>C (p.Arg146Pro) rs2150278481
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His)
NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly)
NM_006852.6(TLK2):c.2233A>G (p.Asn745Asp) rs2147361869
NM_007118.4(TRIO):c.6913G>A (p.Gly2305Ser)
NM_013275.6(ANKRD11):c.4489A>T (p.Arg1497Trp)
NM_013275.6(ANKRD11):c.5534G>T (p.Cys1845Phe) rs1305421290
NM_013275.6(ANKRD11):c.6346G>A (p.Glu2116Lys)
NM_013436.5(NCKAP1):c.1085G>C (p.Gly362Ala)
NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)
NM_014159.7(SETD2):c.5128C>T (p.Arg1710Cys) rs2107674100
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
NM_014284.3(NCDN):c.646C>T (p.Pro216Ser)
NM_015001.3(SPEN):c.5567A>G (p.Asn1856Ser) rs113470169
NM_015021.3(ZNF292):c.2312G>A (p.Arg771Gln)
NM_015076.5(CDK19):c.410A>T (p.Asp137Val)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala)
NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal)
NM_015443.4(KANSL1):c.487A>G (p.Lys163Glu)
NM_015559.3(SETBP1):c.3937G>C (p.Asp1313His) rs2145116733
NM_017433.5(MYO3A):c.905C>T (p.Thr302Met)
NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)
NM_018489.3(ASH1L):c.5786A>G (p.Gln1929Arg)
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
NM_033118.4(MYLK2):c.1424+6C>T
NM_078480.3(PUF60):c.116C>T (p.Thr39Ile)
NM_078629.4(MSL3):c.1094G>A (p.Ser365Asn)
NM_138927.4(SON):c.4132_4153del (p.Ser1379fs)
NM_170606.3(KMT2C):c.3821A>G (p.Lys1274Arg)
NM_182641.4(BPTF):c.3905G>A (p.Ser1302Asn)
NM_182931.3(KMT2E):c.4754G>A (p.Gly1585Glu)
NM_205768.3(ZBTB18):c.926G>T (p.Ser309Ile)

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