ClinVar Miner

List of variants reported as uncertain significance for Cohen syndrome by Baylor Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00003
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) rs1055918734 0.00003
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00003
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00003
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala) rs1027684992 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) rs1563849907 0.00001
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) rs761972356
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) rs1817118329
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) rs1563916076
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) rs1812163324
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407

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