ClinVar Miner

List of variants in gene KANSL1 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1268_1269del (p.Pro423fs) rs1555574888
NM_015443.4(KANSL1):c.1450del (p.Glu484fs) rs34878385
NM_015443.4(KANSL1):c.1651dup (p.Thr551fs) rs1057518010
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn) rs1057520050
NM_015443.4(KANSL1):c.2542-2A>G rs2077089395
NM_015443.4(KANSL1):c.2667-1G>A rs2077066926
NM_015443.4(KANSL1):c.2902del (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.930del (p.Lys311fs) rs1597871799

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