ClinVar Miner

List of variants studied for capillary infantile hemangioma

Included ClinVar conditions (2):
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Total variants: 28
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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 0.02171
NM_002253.4(KDR):c.1116G>C (p.Glu372Asp) rs113121239 0.00691
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_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00180
NM_002253.4(KDR):c.1136C>T (p.Ala379Val) rs747477930 0.00018
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln) rs757396801 0.00005
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) rs748266278 0.00003
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_002253.4(KDR):c.1616G>A (p.Gly539Glu) rs1487493814 0.00001
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe) rs1041785569 0.00001
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) rs1727604042
NM_002253.4(KDR):c.1259C>T (p.Pro420Leu)
NM_002253.4(KDR):c.1567A>C (p.Asn523His)
NM_002253.4(KDR):c.2381G>A (p.Gly794Glu)
NM_002253.4(KDR):c.3193G>A (p.Ala1065Thr)
NM_002253.4(KDR):c.3663T>C (p.Ser1221=) rs756332251
NM_002253.4(KDR):c.953A>T (p.Asn318Ile)
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_182925.5(FLT4):c.1109A>G (p.Lys370Arg)
NM_182925.5(FLT4):c.200C>T (p.Ala67Val)
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_182925.5(FLT4):c.3712G>A (p.Gly1238Arg)
NM_182925.5(FLT4):c.3778A>C (p.Met1260Leu)

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