ClinVar Miner

List of variants studied for distal arthrogryposis type 5D by Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.1059+1G>A
NM_004826.4(ECEL1):c.1151A>C (p.Gln384Pro)
NM_004826.4(ECEL1):c.1685+1G>A
NM_004826.4(ECEL1):c.398_410del (p.Gly133fs)

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