List of variants reported as not provided for Ehlers-Danlos syndrome, vascular type

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	rs112185887	0.00176
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)	rs756125442	0.00007
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)	rs568986390	0.00006
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)	rs769100283	0.00004
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)	rs372027308	0.00003
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)	rs752110396	0.00001
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)	rs751807135	0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)	rs772428340	0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)	rs1131691353	0.00001
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)	rs1057518075
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)	rs587779583
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg)	rs587779553
NM_000090.4(COL3A1):c.528+5G>A	rs794728038
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg)	rs1688217136

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