ClinVar Miner

List of variants reported as benign for Surfactant metabolism dysfunction, pulmonary, 2

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001317778.2(SFTPC):c.43-21T>C rs13248346 0.50036
NM_001317778.2(SFTPC):c.*123G>A rs7592 0.35835
NM_001317778.2(SFTPC):c.*19-39dup rs3216166 0.35833
NM_001317778.2(SFTPC):c.436-26C>G rs2070687 0.28233
NM_001317778.2(SFTPC):c.*174G>A rs1139547 0.26088
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) rs1124 0.25849
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_001317778.2(SFTPC):c.*36A>G rs75518353 0.01088
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
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.288C>T (p.Ile96=) rs79866047 0.00294
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.201+49C>A rs2070684
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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