List of variants in gene combination CHST14, LOC130056851 reported as uncertain significance for Ehlers-Danlos syndrome, musculocontractural type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)	rs766643057	0.00019
NM_130468.4(CHST14):c.32C>T (p.Ala11Val)	rs1030815676	0.00009
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)	rs1352733612	0.00004
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu)	rs1321331803	0.00003
NM_130468.4(CHST14):c.138G>C (p.Met46Ile)	rs1466102278	0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val)	rs780919131	0.00002
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)	rs749135787	0.00002
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)	rs896003662	0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)	rs1389417786	0.00001
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.130A>G (p.Met44Val)	rs1043447552
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	rs397518432
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)	rs1046833753
NM_130468.4(CHST14):c.151G>A (p.Val51Met)	rs199749498
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)	rs1235160320
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)

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