ClinVar Miner

List of variants studied for congenital secretory sodium diarrhea 3

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_021102.4(SPINT2):c.488A>G (p.Tyr163Cys) rs121908403 0.00014
NM_021102.4(SPINT2):c.447G>A (p.Trp149Ter) rs780880496 0.00002
NM_021102.4(SPINT2):c.337+2T>C rs606231155 0.00001
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys) rs781030322 0.00001
NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)
NM_021102.4(SPINT2):c.1A>T (p.Met1Leu) rs121908404
NM_021102.4(SPINT2):c.386A>G (p.Tyr129Cys) rs2146278813
NM_021102.4(SPINT2):c.421C>G (p.Pro141Ala)
NM_021102.4(SPINT2):c.502G>A (p.Gly168Ser) rs606231284
NM_021102.4(SPINT2):c.553+2T>A rs112576957
NM_021102.4(SPINT2):c.593-1G>A rs606231154
NM_021102.4(SPINT2):c.593-2_593del rs2146281066

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