ClinVar Miner

List of variants reported as benign for 2q23.1 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) rs536900412
NM_018328.4(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1535C>T (p.Ser512Phe) rs201695275
NM_018328.4(MBD5):c.1596A>G (p.Val532=) rs114611333
NM_018328.4(MBD5):c.1638C>T (p.Ala546=) rs116413446
NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) rs576930680
NM_018328.4(MBD5):c.2162C>T (p.Pro721Leu) rs138639760
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) rs147455836
NM_018328.4(MBD5):c.2279A>G (p.His760Arg) rs763275881
NM_018328.4(MBD5):c.2399G>A (p.Gly800Asp) rs201668347
NM_018328.4(MBD5):c.276A>G (p.Ala92=) rs141855494
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.297A>G (p.Leu99=) rs77213206
NM_018328.4(MBD5):c.3055-9T>C rs370173652
NM_018328.4(MBD5):c.3094A>T (p.Ile1032Leu) rs774513612
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) rs199626531
NM_018328.4(MBD5):c.3279C>T (p.Val1093=) rs35692977
NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) rs115940994
NM_018328.4(MBD5):c.3490G>A (p.Ala1164Thr) rs534413662
NM_018328.4(MBD5):c.3500C>T (p.Pro1167Leu) rs1057522316
NM_018328.4(MBD5):c.3595G>A (p.Gly1199Arg) rs201334086
NM_018328.4(MBD5):c.3739A>G (p.Ile1247Val) rs746105686
NM_018328.4(MBD5):c.3930A>G (p.Gln1310=) rs115145637
NM_018328.4(MBD5):c.4032C>T (p.Ser1344=) rs777735514
NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) rs199530726
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018328.4(MBD5):c.785A>G (p.Asn262Ser)
NM_018328.4(MBD5):c.796A>G (p.Ile266Val) rs568826753
NM_018328.5(MBD5):c.3659G>A (p.Gly1220Asp)
NM_018328.5(MBD5):c.871A>G (p.Met291Val)

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