ClinVar Miner

List of variants reported as uncertain significance for infectious disease by Alder lab, University of Pittsburgh

Included ClinVar conditions (51):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) rs145269995 0.00019
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn) rs138092785 0.00012
NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile) rs141635976 0.00009
NM_001089.3(ABCA3):c.1432T>C (p.Phe478Leu) rs368903234 0.00005
NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn) rs376565433 0.00005
NM_001079668.3(NKX2-1):c.67G>C (p.Gly23Arg) rs773410433 0.00003
NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr) rs762395469 0.00003
NM_001089.3(ABCA3):c.2200G>A (p.Ala734Thr) rs776927506 0.00002
NM_001079668.3(NKX2-1):c.631A>G (p.Lys211Glu) rs775837863 0.00001
NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln) rs200173380 0.00001
NM_001079668.3(NKX2-1):c.396C>A (p.Asp132Glu) rs761535664
NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn) rs1881119358
NM_001079668.3(NKX2-1):c.781C>A (p.Gln261Lys) rs2139407086
NM_001089.3(ABCA3):c.1780G>A (p.Gly594Arg) rs368830525
NM_001089.3(ABCA3):c.1819A>G (p.Ser607Gly) rs2505642374
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu) rs200855390
NM_001089.3(ABCA3):c.4797G>C (p.Gln1599His) rs2505611649
NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu) rs201777730
NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu) rs777910370
NM_005411.5(SFTPA1):c.656G>T (p.Arg219Leu) rs372941810

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