ClinVar Miner

List of variants reported as pathogenic for cardiovascular organ benign neoplasm

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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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_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
46;XY;inv(6)(p22q13)dn
46;XY;t(7;13)(p15.3;q14.1)dn
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser) rs2116413948
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) rs1589792836
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_133171.5(ELMO2):c.1065+1G>T
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.311dup (p.Met104fs) rs2145827538
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169

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