ClinVar Miner

List of variants reported for not provided by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_032776.3(JMJD1C):c.6570+3G>A rs76935733 0.00908
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_000450.2(SELE):c.975C>A (p.Phe325Leu) rs79478039 0.00316
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg) rs61996335 0.00307
NM_017999.5(RNF31):c.1865A>T (p.Gln622Leu) rs149481717 0.00307
NM_001036.6(RYR3):c.8555G>A (p.Arg2852His) rs150799181 0.00265
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_002831.6(PTPN6):c.9-6G>A rs200900053 0.00214
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser) rs61996331 0.00195
NM_001771.4(CD22):c.2006G>A (p.Arg669His) rs140037563 0.00179
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=) rs200309704 0.00163
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln) rs141223506 0.00130
NM_001771.4(CD22):c.892G>A (p.Glu298Lys) rs138089449 0.00128
NM_000450.2(SELE):c.1648C>T (p.Pro550Ser) rs3917429 0.00124
NM_003005.4(SELP):c.1499C>T (p.Ser500Phe) rs6130 0.00124
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00108
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln) rs199648816 0.00104
NM_000632.4(ITGAM):c.2853G>T (p.Met951Ile) rs61758333 0.00092
NM_001145715.3(KPNA7):c.461A>T (p.Glu154Val) rs200308603 0.00069
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_032776.3(JMJD1C):c.468C>G (p.Asn156Lys) rs145265323 0.00057
NM_001036.6(RYR3):c.6850G>A (p.Ala2284Thr) rs201633381 0.00046
NM_173728.4(ARHGEF15):c.256G>A (p.Asp86Asn) rs146257701 0.00045
NM_001201550.3(CFHR4):c.119G>A (p.Arg40His) rs200977143 0.00044
NM_005051.3(QARS1):c.117+5G>A rs151099269 0.00042
NM_001018116.2(CAVIN4):c.384C>G (p.Asn128Lys) rs143268013 0.00035
NM_012281.3(KCND2):c.1278+4C>T rs368783057 0.00031
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln) rs369420540 0.00029
NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile) rs113976248 0.00029
NM_178013.4(PRIMA1):c.16T>G (p.Leu6Val) rs186707302 0.00029
NM_003005.4(SELP):c.985G>A (p.Ala329Thr) rs141287418 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala) rs764159372 0.00021
NM_001192.3(TNFRSF17):c.223T>G (p.Phe75Val) rs11570148 0.00018
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_003803.4(MYOM1):c.2087G>A (p.Arg696His) rs767192545 0.00015
NM_005428.4(VAV1):c.724-11C>T rs367963535 0.00013
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_003808.4(TNFSF13):c.141T>C (p.Ala47=) rs376426219 0.00006
NM_005207.4(CRKL):c.840C>T (p.Asn280=) rs769606385 0.00006
NM_003803.4(MYOM1):c.1051C>T (p.Arg351Trp) rs375848036 0.00005
NM_002047.4(GARS1):c.-31C>A rs549993976 0.00004
NM_003954.5(MAP3K14):c.2433+8G>A rs921192159 0.00004
NM_003005.4(SELP):c.1366G>T (p.Glu456Ter) rs201464784 0.00003
NM_004104.5(FASN):c.1740C>T (p.His580=) rs746029897 0.00003
NM_017999.5(RNF31):c.515A>G (p.Gln172Arg) rs781741612 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) rs772019564 0.00002
NM_000450.2(SELE):c.829G>A (p.Glu277Lys) rs958543861 0.00001
NM_000450.2(SELE):c.901+9G>T rs770740485 0.00001
NM_001036.6(RYR3):c.30C>A (p.Asp10Glu) rs761390620 0.00001
NM_001201550.3(CFHR4):c.1153G>A (p.Gly385Arg) rs761767894 0.00001
NM_003005.4(SELP):c.479C>T (p.Thr160Ile) rs1466050047 0.00001
NM_004104.5(FASN):c.5113C>T (p.Arg1705Trp) rs766947051 0.00001
NM_005051.3(QARS1):c.1479T>C (p.Val493=) rs776640127 0.00001
NM_005428.4(VAV1):c.381-8C>A rs780032946 0.00001
NM_012281.3(KCND2):c.648T>A (p.Ile216=) rs773347530 0.00001
NM_014639.4(SKIC3):c.3124G>C (p.Ala1042Pro) rs146638227 0.00001
NM_032776.3(JMJD1C):c.3027G>A (p.Gln1009=) rs1191109718 0.00001
NM_198859.4(PRICKLE2):c.2126C>G (p.Ser709Cys) rs1559505915 0.00001
NM_000157.4(GBA1):c.203C>G (p.Pro68Arg)
NM_000157.4(GBA1):c.687G>A (p.Ala229=)
NM_001032283.3(TMPO):c.565+1320A>G
NM_001099735.2(CKMT2):c.352-3C>T
NM_001114133.3(SYNPO2L):c.2120dup (p.Pro708fs)
NM_001192.3(TNFRSF17):c.16G>C (p.Gly6Arg) rs2055184890
NM_001201550.3(CFHR4):c.596C>T (p.Ser199Phe)
NM_001330723.2(SNX27):c.17G>T (p.Gly6Val) rs954308263
NM_001431.4(EPB41L2):c.1421_1422del (p.Lys474fs)
NM_001771.4(CD22):c.1552G>A (p.Glu518Lys) rs747460337
NM_002029.4(FPR1):c.443G>A (p.Gly148Glu)
NM_002692.4(POLE2):c.114A>G (p.Glu38=)
NM_002831.6(PTPN6):c.9-7C>T rs377223489
NM_002997.5(SDC1):c.576T>C (p.Ala192=) rs1250072685
NM_003005.4(SELP):c.1195T>C (p.Cys399Arg) rs1557960534
NM_003005.4(SELP):c.1879C>A (p.Pro627Thr) rs1661653936
NM_003803.4(MYOM1):c.2103C>G (p.Asp701Glu)
NM_003803.4(MYOM1):c.4211A>G (p.His1404Arg)
NM_003809.3(TNFSF12):c.317C>T (p.Ala106Val) rs369851985
NM_003954.5(MAP3K14):c.1830C>T (p.Ser610=) rs781573292
NM_004104.5(FASN):c.5407A>G (p.Ser1803Gly) rs2144785472
NM_005428.4(VAV1):c.1965G>A (p.Val655=) rs1039574181
NM_005591.4(MRE11):c.59A>G (p.Asp20Gly) rs1565242083
NM_006289.4(TLN1):c.1361G>A (p.Arg454His)
NM_006289.4(TLN1):c.2513A>G (p.Asn838Ser)
NM_013241.3(FHOD1):c.1755del (p.Pro587fs)
NM_014476.6(PDLIM3):c.331-513A>G
NM_014639.4(SKIC3):c.1613G>C (p.Ser538Thr)
NM_014639.4(SKIC3):c.1783C>G (p.Pro595Ala) rs751343448
NM_014639.4(SKIC3):c.3885G>T (p.Lys1295Asn) rs892221746
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_017553.3(INO80):c.2644A>G (p.Ile882Val)
NM_017553.3(INO80):c.826C>G (p.Arg276Gly) rs866583951
NM_031460.4(KCNK17):c.190C>T (p.Gln64Ter)
NM_078471.4(MYO18A):c.6129_6130del (p.Ser2043fs)
NM_138713.4(NFAT5):c.221C>T (p.Ala74Val)
NM_152309.3(PIK3AP1):c.485C>T (p.Ser162Phe)
NM_152381.6(XIRP2):c.7441del (p.Val2481fs)
NM_172245.4(CSF2RA):c.*44G>A
NM_194293.4(XIRP1):c.1996G>A (p.Glu666Lys)
NM_198859.4(PRICKLE2):c.1512_1517del (p.Glu509_Glu510del) rs768032905
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val) rs747788121
NM_207396.3(RNF207):c.1889_1892del (p.Arg630fs)

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