ClinVar Miner

List of variants reported as benign for cardiovascular neoplasm

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002253.4(KDR):c.3848+15T>C rs2412617 0.99680
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=) rs2257495 0.98384
NM_005401.5(PTPN14):c.-26G>A rs10864100 0.83031
NM_005401.5(PTPN14):c.2688+26C>T rs3013451 0.82386
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) rs7550799 0.82382
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) rs1135352 0.81332
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_005401.5(PTPN14):c.758+5T>G rs11580603 0.37880
NM_005401.5(PTPN14):c.*26G>A rs2291831 0.15689
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_133171.5(ELMO2):c.963G>A (p.Arg321=) rs41310805 0.01127
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=) rs8124302 0.00264
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) rs143672551 0.00021
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_005401.5(PTPN14):c.929+24del rs11322819

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