List of variants reported as uncertain significance for arteriovenous hemangioma/malformation

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)	rs148223897	0.00048
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)	rs200088377	0.00012
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	rs1332140763	0.00003
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	rs730880473	0.00002
NM_033360.4(KRAS):c.112-5C>T	rs376520586	0.00001
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)	rs755664291
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	rs1951383854
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)	rs772718469
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)	rs1554079046
NM_033360.4(KRAS):c.101_106del	rs1339924833

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