List of variants in gene SLC26A2 studied for Achondrogenesis

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.*1892dup	rs148778566	0.04587
NM_000112.4(SLC26A2):c.*4870dup	rs368872246	0.00983
NM_000112.4(SLC26A2):c.*4397A>G	rs547302746	0.00009
NM_000112.4(SLC26A2):c.*4064dup	rs886060247	0.00006
NM_000112.4(SLC26A2):c.*1221del	rs886060233
NM_000112.4(SLC26A2):c.*1221dup	rs886060233
NM_000112.4(SLC26A2):c.*3690CAG[1]	rs886060246
NM_000112.4(SLC26A2):c.*4469del	rs397883627
NM_000112.4(SLC26A2):c.*4469dup	rs397883627

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