ClinVar Miner

List of variants studied for cleft palate by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln) rs1156605251 0.00001
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) rs778360818 0.00001
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs) rs1553544133
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356

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