ClinVar Miner

List of variants studied for capillary hemangioma

Included ClinVar conditions (10):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002253.4(KDR):c.3848+15T>C rs2412617 0.99680
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) rs748266278 0.00004
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
46;XY;inv(6)(p22q13)dn
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val) rs933640981
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) rs1727604042
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_002253.4(KDR):c.1616G>A (p.Gly539Glu)
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528

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