List of variants in gene combination IDUA, SLC26A1 reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)	rs148386572	0.00222
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	rs146466185	0.00158
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys)	rs370834972	0.00016
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln)	rs387907487	0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln)	rs368990025	0.00011
NM_000203.5(IDUA):c.299+1368C>T	rs376289512	0.00010
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr)	rs374176452	0.00008
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met)	rs201503661	0.00004
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)	rs387907483	0.00003
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met)	rs387907484	0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser)	rs387907486	0.00001
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	rs370442463
NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val)	rs387907480
NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys)	rs387907488
NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=)	rs387907479
NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser)	rs387907485
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr)	rs387907481
NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg)	rs387907482

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