ClinVar Miner

List of variants reported as uncertain significance for IVIC syndrome

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) rs549741547 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 0.00006
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) rs202087308 0.00004
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) rs773046204 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) rs747560279 0.00003
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) rs139802240 0.00003
NM_020436.5(SALL4):c.1005T>C (p.Leu335=) rs150350828 0.00001
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) rs1010416849 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) rs138891224
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) rs774714248

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