ClinVar Miner

List of variants in gene KIF22 studied for bone disorder

Included ClinVar conditions (1350):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_007317.3(KIF22):c.1425G>A (p.Val475=) rs2450399 0.91348
NM_007317.3(KIF22):c.1230C>T (p.Ile410=) rs235648 0.91333
NM_007317.3(KIF22):c.1145-6A>G rs138675020 0.00445
NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn) rs1461250681 0.00001
NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala) rs757545358 0.00001
NM_007317.3(KIF22):c.1647C>G (p.His549Gln) rs142414573 0.00001
NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg) rs141198653 0.00001
NM_007317.3(KIF22):c.641C>A (p.Pro214His) rs1024180320 0.00001
NM_007317.3(KIF22):c.8C>T (p.Ala3Val) rs755405115 0.00001
NM_007317.3(KIF22):c.127C>T (p.Arg43Cys)
NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)
NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys) rs1596854441
NM_007317.3(KIF22):c.1424T>G (p.Val475Gly) rs1555499767
NM_007317.3(KIF22):c.146G>A (p.Arg49Gln)
NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala) rs1899240993
NM_007317.3(KIF22):c.1737G>A (p.Gln579=) rs144222256
NM_007317.3(KIF22):c.1898_1915del (p.Asp633_Glu638del)
NM_007317.3(KIF22):c.361G>A (p.Ala121Thr)
NM_007317.3(KIF22):c.392C>G (p.Ala131Gly)
NM_007317.3(KIF22):c.442C>T (p.Pro148Ser) rs193922920
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922
NM_007317.3(KIF22):c.502T>C (p.Trp168Arg) rs779247770
NM_007317.3(KIF22):c.576G>C (p.Ser192=) rs11545431
NM_007317.3(KIF22):c.752T>C (p.Leu251Pro) rs2142373200

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