List of variants studied for Cohen syndrome by Mendelics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)	rs145569846	0.00178
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)	rs201963516	0.00027
NM_152564.5(VPS13B):c.1079del (p.Asp360fs)	rs767518464	0.00002
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)	rs780598553	0.00001
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)	rs1588810695
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)	rs386834068
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)	rs386834074
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_152564.5(VPS13B):c.9331-2_9331-1del	rs764288792
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)	rs754443525

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