ClinVar Miner

List of variants reported as likely benign for pulmonary fibrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001317778.2(SFTPC):c.*36A>G rs75518353 0.01088
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_006129.5(BMP1):c.-15C>G rs373839736 0.00814
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00444
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) rs79866047 0.00294
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_001317778.2(SFTPC):c.24C>G (p.Val8=) rs144603526 0.00083
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) rs199905878 0.00059
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00042
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_003018.3(SFTPC):c.-56_-55dup rs545529507 0.00012
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_001317778.2(SFTPC):c.*171G>A rs1352249630 0.00003
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) rs566914013 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_003018.3(SFTPC):c.-67C>T rs377267823
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087

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