ClinVar Miner

List of variants reported as likely benign for Cohen syndrome by Counsyl

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_152564.5(VPS13B):c.1206+23T>A rs745316537 0.00003
NM_152564.5(VPS13B):c.8445+50del rs761647040 0.00002
NM_152564.5(VPS13B):c.4224+6A>G rs1173901763 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.2515+16596_2515+16608del rs1554674064
NM_152564.5(VPS13B):c.2515+16609T>G rs1554674081
NM_152564.5(VPS13B):c.2515+37177T>C rs207469599
NM_152564.5(VPS13B):c.4158-16A>C rs1554824637
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) rs1554824647
NM_152564.5(VPS13B):c.4224+725A>T rs1554825046
NM_152564.5(VPS13B):c.7941+20_7941+42del rs769286340
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) rs267601673

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