ClinVar Miner

List of variants studied for Hepatoblastoma

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His) rs148192224 0.00335
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile) rs200769337 0.00068
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000537.4(REN):c.1216C>T (p.Arg406Cys) rs547414447 0.00018
NM_002253.4(KDR):c.2525G>A (p.Arg842His) rs149901681 0.00015
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met) rs765601038 0.00005
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr) rs749789023 0.00005
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys) rs754143860 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met) rs753975630 0.00003
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu) rs1443199004 0.00002
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys) rs147470888 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala) rs767806932 0.00001
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala) rs1394064377 0.00001
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys) rs1555610947 0.00001
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter) rs2149898263
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) rs137854578
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000123.4(ERCC5):c.1081del (p.Leu361fs) rs2140527110
NM_000137.4(FAH):c.506C>T (p.Ser169Phe) rs2142097943
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu) rs63750285
NM_000455.5(STK11):c.397G>A (p.Val133Met) rs567769257
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His) rs368409953
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile) rs2149150096
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis) rs1553630102
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_002430.3(MN1):c.912GCA[5] (p.Gln309del) rs747503495
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln) rs2137374485
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg) rs2125455732
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg) rs1553153748
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) rs1245071059
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His) rs2139356308
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg) rs371430235
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met) rs766320232
NM_207122.2(EXT2):c.1242C>T (p.Ile414=) rs2135127852

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