ClinVar Miner

List of variants studied for 2q23.1 microdeletion syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 7
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NM_018328.4(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_018328.4(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg) rs377062993
NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) rs114359726
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) rs543329958

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