ClinVar Miner

List of variants reported as benign for EEC syndrome and related syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_000141.5(FGFR2):c.*259C>T rs1047057
NM_000141.5(FGFR2):c.*469G>A rs41294351
NM_000141.5(FGFR2):c.-157A>G rs41258305
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-318G>C rs41301547
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_003722.5(TP63):c.*1343T>C
NM_003722.5(TP63):c.*1386T>C rs35785527
NM_003722.5(TP63):c.*1464G>T rs571277874
NM_003722.5(TP63):c.*1620T>C rs34328757
NM_003722.5(TP63):c.*1939T>G rs567626735
NM_003722.5(TP63):c.*2002T>G rs35969817
NM_003722.5(TP63):c.*2016A>G
NM_003722.5(TP63):c.*2123C>T rs36064124
NM_003722.5(TP63):c.*2139G>A rs35356690
NM_003722.5(TP63):c.*2216G>A rs35861864
NM_003722.5(TP63):c.*2318G>A rs199834330
NM_003722.5(TP63):c.*2345C>T rs35592567
NM_003722.5(TP63):c.*2426C>T rs568346565
NM_003722.5(TP63):c.*2477T>G rs186295449
NM_003722.5(TP63):c.*2625A>T rs35694511
NM_003722.5(TP63):c.*379T>A rs192879052
NM_003722.5(TP63):c.*435C>T rs78233713
NM_003722.5(TP63):c.*45C>T rs34057105
NM_003722.5(TP63):c.*471A>T
NM_003722.5(TP63):c.*541G>A rs73199799
NM_003722.5(TP63):c.*627T>C rs184452906
NM_003722.5(TP63):c.*638C>G rs6444406
NM_003722.5(TP63):c.*854A>G rs187751631
NM_003722.5(TP63):c.-58A>T rs28673064
NM_003722.5(TP63):c.1404A>G (p.Lys468=)
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552
NM_003722.5(TP63):c.1652+14A>C rs150685395
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
NM_003722.5(TP63):c.210G>C (p.Gln70His)
NM_003722.5(TP63):c.303G>A (p.Ser101=) rs186864205
NM_003722.5(TP63):c.387G>A (p.Ser129=)
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782
NM_003722.5(TP63):c.766+5G>A rs374425727
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049
NM_003722.5(TP63):c.900G>A (p.Thr300=)
NM_003722.5(TP63):c.992+4A>C rs534974406
NM_004465.2(FGF10):c.430-15G>C rs2290070
NM_004465.2(FGF10):c.591C>T (p.Thr197=) rs17234639
NM_022970.3(FGFR2):c.2304+15C>T rs2278202

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