ClinVar Miner

List of variants reported for Multiple endocrine neoplasia, type 1 by Counsyl

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del) rs1555164218
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037

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