ClinVar Miner

List of variants studied for distal arthrogryposis type 5D by Genome-Nilou Lab

Included ClinVar conditions (1):

Distal arthrogryposis type 5D

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr)	rs1529874	0.96312
NM_004826.4(ECEL1):c.787-23G>C	rs2573246	0.66473
NM_004826.4(ECEL1):c.2229-29A>C	rs2741279	0.49585
NM_004826.4(ECEL1):c.1507-30G>C	rs6750085	0.35871

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