ClinVar Miner

List of variants in gene SLFN14 reported as likely pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter) rs192498365 0.00013
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn) rs869320715
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp) rs869320714

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