ClinVar Miner

List of variants reported by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1685+36A>G rs163150 0.65861
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs) rs745882420 0.00006
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_001943.5(DSG2):c.1014+7A>G rs756562276 0.00002
NM_002230.4(JUP):c.*19G>A rs782012233 0.00002
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys) rs770911263 0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro) rs199473399 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu) rs1649395606 0.00001
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser) rs1299197961 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NC_000011.9:g.(?_2683186)_(2683314_?)del
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) rs775362401
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) rs1564825414
NM_000218.3(KCNQ1):c.1128+4dup
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1487del (p.Leu496fs)
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val) rs199472791
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) rs199472814
NM_000218.3(KCNQ1):c.1794+1G>A
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.387-1G>C
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) rs199472693
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.584_604+46del
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) rs199473457
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs) rs1060500626
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln)
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086
NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)
NM_000218.3(KCNQ1):c.921+1G>A rs397508130
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile) rs199472746
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.337-5T>G rs2137951361
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr) rs1374577335
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys) rs1299849256
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu) rs1278512393
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr) rs1194621692
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys) rs1057518518
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile) rs2148667252
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp) rs2148728656
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys) rs1683039143
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn) rs2148846582
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser) rs1284705376
NM_001943.5(DSG2):c.829-3C>A rs1295936995
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys) rs1555602080
NM_002230.4(JUP):c.708-3C>A rs1555604620
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln) rs1288935716
NM_004415.4(DSP):c.1627A>C (p.Asn543His) rs917602533
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) rs767885673
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val) rs2113699658
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_024334.3(TMEM43):c.584-4T>A rs2124990773
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.2251-3C>T rs2144784605
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773

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