ClinVar Miner

List of variants in gene SFTPA2 studied for infectious disease

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001098668.4(SFTPA2):c.292+21G>A rs17884396 0.33614
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30862
NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys) rs1965708 0.25261
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_001098668.4(SFTPA2):c.460G>C (p.Ala154Pro) rs375082207 0.00019
NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr) rs762395469 0.00003
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) rs371035540 0.00001
NM_001098668.4(SFTPA2):c.557A>G (p.Tyr186Cys) rs1319818753 0.00001
NM_001098668.4(SFTPA2):c.-23-5G>A rs1650232
NM_001098668.4(SFTPA2):c.-54+1G>C
NM_001098668.4(SFTPA2):c.171A>G (p.Pro57=)
NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile) rs2132046635
NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser) rs121917738
NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu) rs777910370
NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys) rs2492317079
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) rs121917737
NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg) rs2132045183

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