ClinVar Miner

List of variants in gene SLC26A4 reported as likely benign for Pendred syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000441.2(SLC26A4):c.1001+30A>G rs556184448 0.00026
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=) rs185493402 0.00015
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.1804-23T>C rs370827220 0.00010
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=) rs778271465 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) rs770874403 0.00004
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=) rs747564818 0.00001
NM_000441.2(SLC26A4):c.135G>T (p.Thr45=) rs756029600 0.00001
NM_000441.2(SLC26A4):c.510A>G (p.Val170=) rs1012979539 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) rs552050976 0.00001
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.1544+9C>G rs368970459
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280

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