ClinVar Miner

List of variants in gene GM2A, LOC129995043 studied for Tay-Sachs disease AB variant

Included ClinVar conditions (2):

Tay-Sachs disease, variant AB
Tay-Sachs disease, variant AB; Tay-Sachs disease

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000405.4(GM2A):c.-102A>G	rs2277028	0.36620
NM_000405.4(GM2A):c.-104T>C	rs1753617546
NM_000405.4(GM2A):c.-83C>G	rs1753618021

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