ClinVar Miner

List of variants in gene SFTPC reported as benign for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003018.3(SFTPC):c.-91C>T rs77253713 0.00704
NM_003018.3(SFTPC):c.-92C>G rs79647630 0.00682
NM_001317778.2(SFTPC):c.18+13G>A rs74515418 0.00511
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) rs75413490 0.00124
NM_001317778.2(SFTPC):c.*12T>A rs200469074 0.00027
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) rs529959941 0.00012
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001317778.2(SFTPC):c.18+12G>A rs202194863 0.00011
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) rs370825102 0.00004
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) rs75413490
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) rs35457216
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) rs75902455

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