ClinVar Miner

List of variants in gene SLC26A2 reported as pathogenic for diastrophic dysplasia

Included ClinVar conditions (2):
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Gene type:
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Total variants: 27
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HGVS dbSNP
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921
NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val) rs267607055
NM_000112.3(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.3(SLC26A2):c.699+2T>C rs1057517461
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915

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