ClinVar Miner

List of variants reported as pathogenic for cardiovascular neoplasm by OMIM

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs) rs281864791
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919

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