List of variants in gene SLC26A2 reported as pathogenic for Atelosteogenesis type II

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)	rs104893918	0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)	rs104893917	0.00003
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu)	rs875989951
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_000112.4(SLC26A2):c.699+2T>C	rs1057517461

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