ClinVar Miner

List of variants in gene SLC26A5 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_198999.3(SLC26A5):c.403+14T>C rs7779997 0.38939
NM_198999.3(SLC26A5):c.570+6G>A rs113889101 0.02621
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_198999.3(SLC26A5):c.-13A>C rs142432368 0.00273
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=) rs141436712 0.00117
NM_198999.3(SLC26A5):c.1233+14A>G rs191459658 0.00104
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=) rs151200437 0.00026
NM_198999.3(SLC26A5):c.1311+3G>T rs397517962
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) rs727503433
NM_198999.3(SLC26A5):c.1514+1G>A rs727504481
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly) rs727504456
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865

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