ClinVar Miner

List of variants reported as likely pathogenic for autosomal anomaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter) rs1665711818
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) rs1029755113
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177

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