ClinVar Miner

List of variants in gene combination KIF1C, LOC126862473 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006612.6(KIF1C):c.1751-7T>A rs148404628 0.00709
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) rs78356534 0.00398
NM_006612.6(KIF1C):c.1959G>A (p.Gln653=) rs759048539 0.00002
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu) rs760659714 0.00001
NM_006612.6(KIF1C):c.1938-5C>G rs1168197465 0.00001
NM_006612.6(KIF1C):c.1750+6_1750+8del rs551276433
NM_006612.6(KIF1C):c.1937+5G>A rs1393131804

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