ClinVar Miner

List of variants in gene XK studied for McLeod neuroacanthocytosis syndrome

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_021083.4(XK):c.554T>C (p.Leu185Ser) rs782066998 0.00008
NM_021083.4(XK):c.508+5G>A rs534318896 0.00001
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
NM_021083.4(XK):c.1013del (p.Phe338fs) rs1602159120
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)
NM_021083.4(XK):c.200C>T (p.Pro67Leu)
NM_021083.4(XK):c.335A>G (p.Asn112Ser)
NM_021083.4(XK):c.404C>T (p.Ala135Val)
NM_021083.4(XK):c.508+1G>A rs1602145991
NM_021083.4(XK):c.509-1G>A rs1602158863
NM_021083.4(XK):c.664C>G (p.Arg222Gly) rs2146834483
NM_021083.4(XK):c.664C>T (p.Arg222Ter) rs2146834483
NM_021083.4(XK):c.794A>G (p.Glu265Gly)
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.938_951del (p.Asn313fs) rs2146834690
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_021083.4(XK):c.979G>A (p.Glu327Lys) rs2146834720
XK, 1-BP DEL

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