List of variants studied for arthrogryposis syndrome by Institute of Human Genetics, Cologne University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)	rs1366269616	0.00001
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs)	rs1057519426
NM_001378183.1(PIEZO2):c.2360T>G (p.Leu787Arg)
NM_002470.4(MYH3):c.2305G>A (p.Gly769Ser)	rs2142400628
NM_004826.4(ECEL1):c.1990-3C>G	rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val)	rs1356994386
NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)	rs1553578312
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)	rs1555734932
NM_173660.5(DOK7):c.455G>A (p.Trp152Ter)	rs150376433

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