ClinVar Miner

List of variants in gene SFTPA2 reported as uncertain significance for infectious disease

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr) rs762395469 0.00003
NM_001098668.4(SFTPA2):c.-54+1G>C
NM_001098668.4(SFTPA2):c.171A>G (p.Pro57=)
NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu) rs777910370
NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys) rs2492317079

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