ClinVar Miner

List of variants studied for autosomal recessive disease by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446 0.00078
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 0.00004
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982 0.00004
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) rs781747541 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987 0.00001
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) rs964336018 0.00001
NM_018451.5(CENPJ):c.3367-1G>A rs763715733 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs) rs1553125914
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg) rs1060499580
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs) rs1555669048
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) rs571594379
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) rs1060499588
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile) rs1060499570
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) rs1060499581

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