ClinVar Miner

List of variants studied for hemophagocytic syndrome by New York Genome Center

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln) rs751609899 0.00001
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys) rs367688184 0.00001
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)

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