ClinVar Miner

List of variants in gene SLFN14 studied for blood platelet disease

Included ClinVar conditions (105):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) rs8073060 0.33902
NM_001129820.2(SLFN14):c.278A>G (p.Gln93Arg) rs10512472 0.19284
NM_001129820.2(SLFN14):c.2713C>T (p.Leu905Phe) rs9907259 0.07201
NM_001129820.2(SLFN14):c.916G>C (p.Asp306His) rs373500415 0.00041
NM_001129820.2(SLFN14):c.426T>G (p.Ser142Arg) rs189281314 0.00015
NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter) rs192498365 0.00013
NM_001129820.2(SLFN14):c.2146C>T (p.Leu716Phe) rs202215190 0.00004
NM_001129820.2(SLFN14):c.1904C>T (p.Thr635Ile) rs762787287 0.00002
NM_001129820.2(SLFN14):c.667C>T (p.Arg223Trp) rs757188030 0.00001
NM_001129820.2(SLFN14):c.1481A>G (p.Gln494Arg) rs2072613042
NM_001129820.2(SLFN14):c.1759C>T (p.Arg587Cys)
NM_001129820.2(SLFN14):c.1840T>C (p.Phe614Leu)
NM_001129820.2(SLFN14):c.2153del (p.Pro718fs) rs771699684
NM_001129820.2(SLFN14):c.2637del (p.Ser880fs)
NM_001129820.2(SLFN14):c.2686T>C (p.Ser896Pro) rs2072550081
NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs) rs2072671208
NM_001129820.2(SLFN14):c.574A>T (p.Lys192Ter)
NM_001129820.2(SLFN14):c.643T>C (p.Phe215Leu)
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
NM_001129820.2(SLFN14):c.859A>G (p.Lys287Glu) rs2072659987

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