ClinVar Miner

List of variants reported as likely benign for Cerebral palsy, spastic quadriplegic, 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_015158.5(KANK1):c.3245+12T>C rs187592077 0.00871
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) rs114114032 0.00369
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) rs114868002 0.00277
NM_015158.5(KANK1):c.804C>T (p.Ala268=) rs116693683 0.00275
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) rs149775124 0.00111
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) rs114649126 0.00081
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) rs367704087 0.00079
NM_015158.5(KANK1):c.2544G>C (p.Leu848=) rs138739899 0.00073
NM_015158.5(KANK1):c.453C>T (p.Asn151=) rs139301285 0.00063
NM_015158.5(KANK1):c.3245+9C>T rs144003040 0.00061
NM_015158.5(KANK1):c.2847G>A (p.Thr949=) rs114869733 0.00051
NM_015158.5(KANK1):c.93C>T (p.Tyr31=) rs151056048 0.00041
NM_015158.5(KANK1):c.561T>C (p.Phe187=) rs139983081 0.00036
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) rs143617877 0.00035
NM_015158.5(KANK1):c.3005+9A>T rs184585076 0.00034
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) rs143880438 0.00031
NM_015158.5(KANK1):c.3554-5_3554-4insTA rs1554721659 0.00030
NM_015158.5(KANK1):c.9C>T (p.His3=) rs144137079 0.00030
NM_015158.5(KANK1):c.2091C>T (p.Asn697=) rs34038073 0.00026
NM_015158.5(KANK1):c.2556C>T (p.Phe852=) rs149371668 0.00026
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) rs114784029 0.00025
NM_015158.5(KANK1):c.1600G>A (p.Val534Met) rs112166059 0.00025
NM_015158.5(KANK1):c.3696+8C>T rs373324342 0.00024
NM_015158.5(KANK1):c.857T>A (p.Val286Glu) rs114947217 0.00024
NM_015158.5(KANK1):c.564A>G (p.Gly188=) rs201155271 0.00019
NM_015158.5(KANK1):c.1533T>C (p.Val511=) rs199881654 0.00013
NM_015158.5(KANK1):c.2064G>A (p.Thr688=) rs143946731 0.00010
NM_015158.5(KANK1):c.2646T>G (p.Thr882=) rs116342444 0.00009
NM_015158.5(KANK1):c.2202G>T (p.Arg734=) rs201557720 0.00007
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) rs142210244 0.00005
NM_015158.5(KANK1):c.783G>A (p.Gln261=) rs759180739 0.00003
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) rs762794892 0.00002
NM_015158.5(KANK1):c.1287A>C (p.Thr429=) rs142442062

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