ClinVar Miner

List of variants reported as pathogenic by Division of Human Genetics, Children's Hospital of Philadelphia

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ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
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_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
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_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
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_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs) rs1064792896
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001451.3(FOXF1):c.965del (p.Pro322fs) rs1969566429
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_005247.4(FGF3):c.270dup (p.Leu91fs) rs1554981083
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
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.625G>T (p.Glu209Ter) rs571594379
NM_022336.4(EDAR):c.284del (p.Gly95fs) rs1060499610
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648

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