ClinVar Miner

List of variants studied for IVIC syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_020436.5(SALL4):c.42G>C (p.Ser14=) rs137903141 0.00008
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
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.2385C>T (p.Ala795=) rs142446452 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.2913G>A (p.Gln971=) rs773001598 0.00002
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.262C>T (p.Leu88=) rs755362179 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
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.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) rs774714248
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409

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