ClinVar Miner

List of variants studied for chromosomal disorder by Provincial Medical Genetics Program of British Columbia, University of British Columbia

Included ClinVar conditions (195):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter) rs2135894892
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) rs2149912373
NM_030665.4(RAI1):c.3660T>A (p.His1220Gln) rs745379131
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly) rs2130202692

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