ClinVar Miner

List of variants studied for autosomal anomaly by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_078480.3(PUF60):c.464del (p.Ile155fs) rs1816624373

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