ClinVar Miner

List of variants reported as likely pathogenic for Flexion contracture

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.4708+2T>G rs1189625999 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp) rs1581595267
NM_001393986.1(PRDM2):c.4283_4295del (p.Leu1428fs) rs1570018597
NM_003297.4(NR2C1):c.544+1G>C rs1592778920
NM_004147.4(DRG1):c.118C>T (p.Arg40Ter) rs1391978939
NM_153810.5(CACUL1):c.910_911del (p.Leu304fs) rs1589602023

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