ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, kyphoscoliotic type 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):

Ehlers-Danlos syndrome, kyphoscoliotic type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)	rs565765056	0.00019
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)	rs1032781250	0.00001
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys)	rs758701213

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