List of variants reported as likely pathogenic for connective tissue neoplasm by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	rs35460768	0.00261
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)	rs149348765	0.00218
NM_005896.4(IDH1):c.565A>G (p.Ile189Val)	rs62193615	0.00054
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)	rs755855285	0.00014
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	rs774380450	0.00003
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	rs121913500	0.00001
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)
NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)

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