ClinVar Miner

List of variants studied for Shukla-Vernon syndrome

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001379451.1(BCORL1):c.4851G>A (p.Ser1617=) rs35736519 0.01042
NM_001379451.1(BCORL1):c.516T>C (p.Asn172=) rs36043572 0.00612
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln) rs201843717 0.00022
NM_001379451.1(BCORL1):c.2459A>G (p.Asn820Ser) rs398123004 0.00009
NM_001379451.1(BCORL1):c.2365C>T (p.Arg789Cys) rs371862075 0.00008
NM_001379451.1(BCORL1):c.985G>C (p.Val329Leu) rs373673739 0.00004
NM_001379451.1(BCORL1):c.1258G>A (p.Val420Met) rs1165081980 0.00001
NM_001379451.1(BCORL1):c.164G>A (p.Ser55Asn) rs1179687241 0.00001
NM_001379451.1(BCORL1):c.2345T>A (p.Val782Glu) rs1488781894 0.00001
NM_001379451.1(BCORL1):c.2863A>C (p.Ser955Arg) rs1057522091 0.00001
NM_001379451.1(BCORL1):c.4184C>T (p.Ser1395Leu) rs1223782435 0.00001
NM_001379451.1(BCORL1):c.*74C>A
NM_001379451.1(BCORL1):c.1055C>G (p.Pro352Arg) rs1929180944
NM_001379451.1(BCORL1):c.1141G>A (p.Val381Met)
NM_001379451.1(BCORL1):c.1288A>G (p.Met430Val) rs1929209697
NM_001379451.1(BCORL1):c.1487C>T (p.Ser496Phe) rs1057521638
NM_001379451.1(BCORL1):c.1508C>T (p.Pro503Leu)
NM_001379451.1(BCORL1):c.1562_1563del (p.Leu521fs)
NM_001379451.1(BCORL1):c.1825C>T (p.Arg609Ter)
NM_001379451.1(BCORL1):c.1943C>T (p.Thr648Ile)
NM_001379451.1(BCORL1):c.200G>C (p.Ser67Thr)
NM_001379451.1(BCORL1):c.2018G>T (p.Gly673Val)
NM_001379451.1(BCORL1):c.2047A>G (p.Thr683Ala)
NM_001379451.1(BCORL1):c.2144G>A (p.Gly715Asp)
NM_001379451.1(BCORL1):c.2314C>T (p.Gln772Ter)
NM_001379451.1(BCORL1):c.2320G>T (p.Gly774Cys)
NM_001379451.1(BCORL1):c.2378G>T (p.Gly793Val)
NM_001379451.1(BCORL1):c.2467C>T (p.Pro823Ser)
NM_001379451.1(BCORL1):c.2582G>A (p.Arg861Lys)
NM_001379451.1(BCORL1):c.26G>A (p.Ser9Asn) rs1928393361
NM_001379451.1(BCORL1):c.2939C>T (p.Thr980Met)
NM_001379451.1(BCORL1):c.2954A>G (p.Gln985Arg)
NM_001379451.1(BCORL1):c.3233G>C (p.Gly1078Ala)
NM_001379451.1(BCORL1):c.3305A>G (p.Lys1102Arg)
NM_001379451.1(BCORL1):c.3401C>A (p.Pro1134Gln) rs1929425543
NM_001379451.1(BCORL1):c.3463C>A (p.Pro1155Thr)
NM_001379451.1(BCORL1):c.3575C>G (p.Ser1192Cys) rs373723553
NM_001379451.1(BCORL1):c.3587G>A (p.Arg1196Gln)
NM_001379451.1(BCORL1):c.3896G>A (p.Arg1299Gln)
NM_001379451.1(BCORL1):c.3973G>A (p.Gly1325Ser) rs1930171348
NM_001379451.1(BCORL1):c.4001G>A (p.Arg1334Gln) rs143797443
NM_001379451.1(BCORL1):c.4054G>C (p.Glu1352Gln) rs141583187
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg) rs2124502701
NM_001379451.1(BCORL1):c.4315C>T (p.Arg1439Cys)
NM_001379451.1(BCORL1):c.4810A>T (p.Ser1604Cys)
NM_001379451.1(BCORL1):c.4976A>C (p.Gln1659Pro)
NM_001379451.1(BCORL1):c.5041C>T (p.Pro1681Ser)
NM_001379451.1(BCORL1):c.5101G>A (p.Asp1701Asn)
NM_001379451.1(BCORL1):c.5147G>A (p.Arg1716Gln) rs1057521222
NM_001379451.1(BCORL1):c.629C>T (p.Ser210Leu) rs267606346
NM_001379451.1(BCORL1):c.800C>T (p.Thr267Met)
NM_001379451.1(BCORL1):c.934C>T (p.Pro312Ser)
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu) rs1603105985

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