ClinVar Miner

List of variants in gene TMPRSS3 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter) rs199903164 0.00002
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe) rs1333651774 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val) rs1306292205 0.00001
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) rs2052560214
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)

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