ClinVar Miner

List of variants in gene MFSD6L studied for not provided

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.8799560G>A rs9900202 0.27410
NC_000017.11:g.8799529G>A rs9900175 0.27407
NM_152599.4(MFSD6L):c.640C>A (p.Pro214Thr) rs17854013 0.20370
NM_152599.4(MFSD6L):c.1016T>C (p.Ile339Thr) rs34184531 0.19080
NM_152599.4(MFSD6L):c.1457G>A (p.Arg486His) rs2242373 0.17948
NM_152599.4(MFSD6L):c.1323C>T (p.Leu441=) rs2242374 0.14265
NM_152599.4(MFSD6L):c.1152T>C (p.Thr384=) rs76513959 0.03915
NC_000017.11:g.8799421G>C rs9899930 0.03674
NC_000017.11:g.8799389G>T rs9899904 0.03279
NM_152599.4(MFSD6L):c.-130G>A rs9901135 0.02346
NM_152599.4(MFSD6L):c.738T>C (p.Phe246=) rs16957601 0.02164
NM_152599.4(MFSD6L):c.1661C>T (p.Ser554Leu) rs74899363 0.00743
NM_152599.4(MFSD6L):c.1292C>T (p.Thr431Met) rs143053789 0.00154
NC_000017.11:g.8799592_8799593del rs72128647
NC_000017.11:g.8799596G>A rs9900380
NM_152599.4(MFSD6L):c.-206C>A rs9899703

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