ClinVar Miner

List of variants reported as uncertain significance for carcinoma of esophagus

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_003242.6(TGFBR2):c.-193G>A rs886058301 0.00034
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.-337T>A rs1038796042 0.00006
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_007335.4(DLEC1):c.865C>A (p.Pro289Thr) rs776704507 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_000059.4(BRCA2):c.5323G>C (p.Val1775Leu) rs1555284171
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly) rs80358920
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly) rs758703490
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) rs753184709
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589

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