ClinVar Miner

List of variants reported as likely pathogenic for congenital limb malformation by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) rs778360818 0.00001
NM_000093.5(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg) rs1555788577
NM_001271938.2(MEGF8):c.3351-2A>C rs2039397653
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu) rs1555242493
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del) rs2075588362
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) rs1554846212
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_032634.4(PIGO):c.1176_1186del (p.Glu392fs) rs1829490529
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter) rs186197620
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356

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