ClinVar Miner

List of variants reported as uncertain significance 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: 185
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00053
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter) rs578143841 0.00018
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln) rs151096656 0.00007
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys) rs371250371 0.00005
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter) rs782783744 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_024580.6(EFL1):c.787C>G (p.Leu263Val) rs751006899 0.00001
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp) rs765063390 0.00001
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys) rs367621359 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro) rs1186965957 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_206933.4(USH2A):c.5298+5G>A rs1176314553 0.00001
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) rs782176754
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) rs1957277819
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg) rs2145455455
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
NM_000271.5(NPC1):c.631+5G>A
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001083961.2(WDR62):c.3083-2A>T
NM_001083961.2(WDR62):c.3336-6C>G
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln) rs2145889410
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) rs587780274
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) rs2146338775
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
NM_003573.2(LTBP4):c.76-2A>G
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.4353+7T>A
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
NM_015102.5(NPHP4):c.1503+2dup
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT rs2151837897
NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)
NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
NM_032793.5(MFSD2A):c.228+8G>A
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
NM_138395.4(MARS2):c.590T>A (p.Leu197His) rs2106292827
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)

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