ClinVar Miner

List of variants reported as uncertain significance for congenital anomalies of kidney and urinary tract 1

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln) rs148815814 0.00139
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186 0.00136
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_006953.4(UPK3A):c.605G>A (p.Gly202Asp) rs121918187
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.2605G>T (p.Ala869Ser) rs1574742379
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) rs1592332125

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