List of variants studied for cardiovascular neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	rs1332140763	0.00003
NM_007217.4(PDCD10):c.474+5G>A	rs1553759139	0.00001
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	rs118203682
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	rs5030826
NM_000969.5(RPL5):c.74-1G>C	rs1553284997
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	rs1555459345
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	rs587776935
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)	rs772718469
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)	rs765548101
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)	rs1554079046
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)	rs770780171
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)	rs1554527169
NM_194454.3(KRIT1):c.990-1G>A	rs1554518790

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