ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by New York Genome Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00073
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001244008.2(KIF1A):c.2812C>T (p.Arg938Trp) rs375371570 0.00004
NM_001244008.2(KIF1A):c.2617C>T (p.Leu873Phe) rs2050011882 0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp) rs1468401006 0.00001
NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile) rs371267255 0.00001
NM_001244008.2(KIF1A):c.179C>A (p.Thr60Asn) rs2126098516
NM_001244008.2(KIF1A):c.3744C>G (p.Asn1248Lys) rs771357052
NM_001244008.2(KIF1A):c.5214+3G>A rs1394328434

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