ClinVar Miner

List of variants in gene CHRNA1 studied for autosomal recessive multiple pterygium syndrome

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.779-12_779-11del	rs1491478953	0.00039
NM_000079.4(CHRNA1):c.190-5del	rs34695580
NM_000079.4(CHRNA1):c.779-12del	rs67309103
NM_000079.4(CHRNA1):c.779-13_779-12del	rs67309103

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