ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837

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