ClinVar Miner

List of variants studied for VISS syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006390.4(IPO8):c.2279del (p.Leu760fs) rs775937664 0.00001
NM_006390.4(IPO8):c.1428+5G>A rs2136152576
NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs) rs1565492786
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn) rs1234764565
NM_006390.4(IPO8):c.2695+4_2695+8del rs2136125267
NM_006390.4(IPO8):c.2900-1G>A rs1243135564
NM_006390.4(IPO8):c.776G>A (p.Trp259Ter) rs2136163716

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