ClinVar Miner

List of variants studied for infectious disease by Mendelics

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.32909
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) rs150351644 0.00451
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00417
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00042
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00021
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00008
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His) rs1586421317
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.652G>A (p.Ala218Thr) rs1554043028

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