ClinVar Miner

List of variants studied for X-linked distal spinal muscular atrophy type 3 by Genome-Nilou Lab

Included ClinVar conditions (3):

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_000052.7(ATP7A):c.2299G>C (p.Val767Leu)	rs2227291	0.24533
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)	rs781970260	0.00005
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)	rs4826245
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)	rs2077548355

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