List of variants reported as likely pathogenic for arthrogryposis syndrome by Cirak Lab, University Hospital Cologne

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	rs117134265	0.00019
NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	rs145631389	0.00017
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	rs200758704	0.00014
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	rs749912939	0.00007
NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro)	rs753414156	0.00005
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	rs201728190	0.00005
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	rs750803388	0.00003
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	rs773449118	0.00002
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	rs552094593	0.00001
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	rs786205271	0.00001
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	rs755496104	0.00001
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	rs777407076	0.00001
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	rs762389271	0.00001
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	rs1201430967	0.00001
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	rs1597978607
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	rs1600892115
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	rs1599649479
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	rs1600682739
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	rs1600822174
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	rs1600843056
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	rs1574630583
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	rs1603040061
NM_001080.3(ALDH5A1):c.814del (p.Cys272fs)	rs1581815207
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	rs1592387849
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	rs1460624416
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	rs1597807901
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	rs1040279711
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_018136.5(ASPM):c.3082+1G>C	rs886041709
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	rs1594368753
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	rs1594616249
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	rs1588980220

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