ClinVar Miner

List of variants in gene combination LOC126860797, NSMF studied for not provided

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001130969.3(NSMF):c.1420-78G>A rs41309970 0.25815
NM_001130969.3(NSMF):c.1419+47C>T rs28699612 0.15987
NM_001130969.3(NSMF):c.1495+41G>A rs41297241 0.08826
NM_001130969.3(NSMF):c.1237-9T>C rs112888704 0.01034
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=) rs139341268 0.00323
NM_001130969.3(NSMF):c.1316+17C>T rs73565600 0.00303
NM_001130969.3(NSMF):c.1330C>T (p.Leu444=) rs150450906 0.00123
NM_001130969.3(NSMF):c.1496-9T>C rs200465164 0.00101
NM_001130969.3(NSMF):c.1347C>T (p.Ser449=) rs201898743 0.00034
NM_001130969.3(NSMF):c.1401G>A (p.Gly467=) rs199663813 0.00019
NM_001130969.3(NSMF):c.1237-20C>T rs373753939 0.00012
NM_001130969.3(NSMF):c.1419+3A>G rs369199677 0.00006
NM_001130969.3(NSMF):c.1237-10C>T rs755837412 0.00003
NM_001130969.3(NSMF):c.1368C>T (p.Asn456=) rs200918564 0.00003
NM_001130969.3(NSMF):c.1524C>T (p.Asp508=) rs746415448 0.00002
NM_001130969.3(NSMF):c.1237-11G>A rs779862169 0.00001
NM_001130969.3(NSMF):c.1315C>T (p.His439Tyr) rs771334994 0.00001
NM_001130969.3(NSMF):c.1316+16C>T rs921204278 0.00001
NM_001130969.3(NSMF):c.1350A>G (p.Lys450=) rs1386458232 0.00001
NM_001130969.3(NSMF):c.1414G>A (p.Glu472Lys) rs1085307813 0.00001
NM_001130969.3(NSMF):c.1496-7C>T rs371043760 0.00001
NM_001130969.3(NSMF):c.1581C>T (p.Asp527=) rs369489711 0.00001
NM_001130969.3(NSMF):c.1317-64C>T rs73565598
NM_001130969.3(NSMF):c.1369G>A (p.Val457Ile)
NM_001130969.3(NSMF):c.1404C>A (p.Asn468Lys) rs748795896
NM_001130969.3(NSMF):c.1461C>T (p.Val487=)
NM_001130969.3(NSMF):c.1493A>T (p.Gln498Leu)
NM_001130969.3(NSMF):c.1515G>A (p.Thr505=) rs778638506

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