ClinVar Miner

List of variants in gene LDB3 studied for Cardiomyopathy

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221 0.00450
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.543C>T (p.Leu181=) rs148324530 0.00006
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.306G>A (p.Val102=) rs201715521 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.336C>T (p.Asp112=) rs776688376 0.00002
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) rs755329877 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.540A>G (p.Leu180=) rs1283051092 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1294T>C (p.Ser432Pro) rs768062879
NM_007078.3(LDB3):c.1296_1343del (p.Ala434_Pro449del) rs397517209
NM_007078.3(LDB3):c.1299T>C (p.Pro433=) rs761685061
NM_007078.3(LDB3):c.1300G>C (p.Ala434Pro) rs769720685
NM_007078.3(LDB3):c.1305T>C (p.Pro435=) rs1009984915
NM_007078.3(LDB3):c.1305_1306delinsCC (p.Ala436Pro) rs2132481671
NM_007078.3(LDB3):c.1306G>C (p.Ala436Pro) rs1390883820
NM_007078.3(LDB3):c.1353del (p.Thr452fs) rs2132481963
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1887G>A (p.Trp629Ter) rs1846967202
NM_007078.3(LDB3):c.1892C>A (p.Thr631Asn) rs1564658947
NM_007078.3(LDB3):c.1895C>A (p.Thr632Asn) rs1195333947
NM_007078.3(LDB3):c.1896C>A (p.Thr632=) rs1846967797
NM_007078.3(LDB3):c.1898G>C (p.Cys633Ser) rs2132487189
NM_007078.3(LDB3):c.2009A>G (p.His670Arg) rs925120006
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=) rs752415111
NM_007078.3(LDB3):c.218G>C (p.Ser73Thr) rs1844992525
NM_007078.3(LDB3):c.36C>A (p.Pro12=) rs1564626136
NM_007078.3(LDB3):c.400G>A (p.Gly134Ser) rs2132371398
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.5C>A (p.Ser2Tyr) rs1564626030
NM_007078.3(LDB3):c.915G>A (p.Ala305=) rs753526743

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