ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter) rs762396810 0.00003
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000414.4(HSD17B4):c.1333+1G>C rs1369305726 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) rs2152235595
NM_001242882.2(NAXD):c.441+3A>G rs2139640370
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) rs757788894
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) rs138510486
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup) rs777543926
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter) rs1895773215
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg) rs2148319465
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro) rs1947057220
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
NM_014797.3(ZBTB24):c.1120+1G>A
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016219.5(MAN1B1):c.917-2_921del
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe) rs765026901
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
NM_138694.4(PKHD1):c.977-2A>G
NM_153676.4(USH1C):c.388-1G>A rs1364331716

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