ClinVar Miner

List of variants studied for carpal tunnel syndrome by OMIM

Included ClinVar conditions (6):

Carpal tunnel syndrome
Carpal tunnel syndrome 1
Carpal tunnel syndrome 2
Carpal tunnel syndrome; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.197T>A (p.Val66Glu)	rs2055205599
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000371.4(TTR):c.400T>C (p.Tyr134His)	rs121918088

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