ClinVar Miner

List of variants in gene PLEC reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp) rs201194946 0.00012
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val) rs375178454 0.00011
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_201384.3(PLEC):c.3050G>A (p.Arg1017Gln) rs782374414 0.00009
NM_201384.3(PLEC):c.5021G>A (p.Arg1674Gln) rs782062918 0.00004
NM_201384.3(PLEC):c.12345C>T (p.Gly4115=) rs782237566 0.00001
NM_201378.4(PLEC):c.71-11629G>A rs782692739
NM_201384.3(PLEC):c.13479_13490dup (p.4491TGSR[3]) rs782472576
NM_201384.3(PLEC):c.1844T>C (p.Leu615Pro) rs2131908618
NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys) rs782156696
NM_201384.3(PLEC):c.5800T>C (p.Phe1934Leu) rs1554695889
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155

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