ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_022042.4(SLC26A1):c.1059C>T (p.Ala353=) rs59758572 0.01975
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) rs187110381 0.00386
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00084
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.299+988C>T rs142262555 0.00037
NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=) rs144567476 0.00011
NM_022042.4(SLC26A1):c.*874C>T rs775172497 0.00001
NM_000203.5(IDUA):c.239T>C (p.Val80Ala)
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_022042.4(SLC26A1):c.1057GCC[3] (p.Ala354_Phe355insAla)
NM_022042.4(SLC26A1):c.1188C>T (p.Ser396=)
NM_022042.4(SLC26A1):c.1284G>A (p.Leu428=)
NM_022042.4(SLC26A1):c.1320C>T (p.Ser440=)
NM_022042.4(SLC26A1):c.1530C>T (p.Thr510=)
NM_022042.4(SLC26A1):c.1668G>A (p.Gln556=)
NM_022042.4(SLC26A1):c.170C>T (p.Thr57Met)
NM_022042.4(SLC26A1):c.255G>A (p.Pro85=) rs147094131
NM_022042.4(SLC26A1):c.312G>A (p.Thr104=)
NM_022042.4(SLC26A1):c.681G>A (p.Gln227=)
NM_022042.4(SLC26A1):c.873G>A (p.Pro291=)

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