ClinVar Miner

List of variants in gene DSTYK studied for congenital anomalies of kidney and urinary tract 1

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) rs3851294 0.93525
NM_015375.3(DSTYK):c.2028C>T (p.Phe676=) rs1062715 0.29534
NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln) rs148815814 0.00139
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu) rs202068245 0.00047
NM_015375.3(DSTYK):c.654+1G>A rs201091809 0.00030
NM_015375.3(DSTYK):c.1819-3C>T rs367692056 0.00011
NM_015375.3(DSTYK):c.2368C>T (p.Arg790Cys) rs773130126 0.00002
NM_015375.3(DSTYK):c.358G>A (p.Asp120Asn) rs373780579 0.00001
NM_015375.3(DSTYK):c.655-3C>T rs554197975 0.00001
NM_015375.3(DSTYK):c.1053dup (p.Gln352fs) rs2102413524
NM_015375.3(DSTYK):c.1060C>G (p.Arg354Gly) rs573628666
NM_015375.3(DSTYK):c.1060C>T (p.Arg354Cys) rs573628666
NM_015375.3(DSTYK):c.1253A>G (p.Asp418Gly) rs555607162
NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter) rs77626160
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) rs1574742379

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