ClinVar Miner

List of variants in gene KIAA0586 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001329943.3(KIAA0586):c.496A>G (p.Thr166Ala) rs773064815 0.00001
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001329943.3(KIAA0586):c.1362G>C (p.Gln454His) rs1595174054
NM_001329943.3(KIAA0586):c.2530C>T (p.Pro844Ser)
NM_001329943.3(KIAA0586):c.3090T>C (p.Gly1030=)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.4495+3751G>A
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.540T>A (p.Ala180=)

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