ClinVar Miner

List of variants in gene KIF7 reported as likely pathogenic for Acrocallosal syndrome

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1443+2T>C rs751900799 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NC_000015.9:g.(90193173_90195833)_(90198683_?)del
NC_000015.9:g.(?_90171650)_(90177134_?)del
NC_000015.9:g.(?_90173498)_(90188702_?)dup
NM_198525.3(KIF7):c.1789-2A>G
NM_198525.3(KIF7):c.2192-1G>A rs1424230161
NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)
NM_198525.3(KIF7):c.2286_2287insT (p.Gln763fs) rs1963937785
NM_198525.3(KIF7):c.2895+1G>C
NM_198525.3(KIF7):c.3318+1G>T
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del) rs1555425036

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