List of variants reported as pathogenic by Cirak Lab, University Hospital Cologne

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)	rs139715157	0.00012
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	rs587784379	0.00006
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_004211.5(SLC6A5):c.1430del (p.Ser477fs)	rs767695215	0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	rs267607038	0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)	rs776757548	0.00001
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)	rs1171462240	0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	rs774338373	0.00001
NM_000540.3(RYR1):c.14647-15_14649del	rs1599673988
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)	rs1568454672
NM_000540.3(RYR1):c.5618del (p.Glu1873fs)	rs1600783776
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	rs1057521117
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	rs1568069621
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	rs587777450
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	rs1597802927
NM_004211.5(SLC6A5):c.1429T>C (p.Ser477Pro)	rs1590169700
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	rs375218091
NM_016156.6(MTMR2):c.1479+1G>A	rs1590974546
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)	rs1590971080
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter)	rs1693726956
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs)	rs1693780539
NM_152328.5(ADSS1):c.741del (p.Lys248fs)	rs769542442
NM_198239.2(CCN6):c.868_869del (p.Ser290fs)	rs781838640

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