ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_000054.6(AVPR2):c.513C>G (p.Ser171Arg)
NM_000089.3(COL1A2):c.2512G>A (p.Gly838Ser) rs1057516036
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp)
NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter) rs1553612617
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln)
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
NM_000965.4(RARB):c.835T>G (p.Phe279Val)
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001032221.6(STXBP1):c.37+2dup
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs) rs1555793199
NM_001080467.3(MYO5B):c.5313+1G>C rs1555793103
NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)
NM_001082971.2(DDC):c.1073G>A (p.Arg358His) rs771317809
NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe) rs1554411234
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) rs757788894
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser) rs377510027
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala)
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup)
NM_003108.4(SOX11):c.305C>T (p.Ala102Val)
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter)
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288
NM_004092.4(ECHS1):c.414+1G>A
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) rs754609693
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val)
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile)
NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) rs1057516044
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn)
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter)
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
NM_016239.4(MYO15A):c.10491+2T>C
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys)
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs)
NM_017547.4(FOXRED1):c.86-1G>A rs768720209
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) rs1057516037
NM_020975.6(RET):c.2629G>C (p.Ala877Pro)
NM_022455.4(NSD1):c.6019A>T (p.Ile2007Phe) rs1057516048
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922
NM_031407.7(HUWE1):c.13070G>A (p.Arg4357His)
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) rs1555783467
NM_052867.4(NALCN):c.985A>G (p.Arg329Gly) rs1057516040
NM_058004.4(PI4KA):c.2386del (p.Arg796fs)
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138927.4(SON):c.1658del (p.Val553fs)
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln)
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg)
NM_173076.3(ABCA12):c.6234-1G>C rs1553520468
NM_198428.3(BBS9):c.214del (p.Val72fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.