ClinVar Miner

List of variants reported as likely pathogenic for chromosomal disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn) rs2153222922
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)

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