ClinVar Miner

List of variants studied for chromosome 5 disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
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.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197

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