ClinVar Miner

List of variants studied for autosomal recessive multiple pterygium syndrome by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (4):

Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B

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_005199.5(CHRNG):c.459dup (p.Val154fs)	rs774279192	0.00048
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	rs747067203	0.00011
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)	rs771588131	0.00001
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)

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