ClinVar Miner

List of variants in gene SCP2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly) rs201094447 0.00048
NM_002979.5(SCP2):c.348C>T (p.Val116=) rs202234745 0.00015
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) rs74638331 0.00014
NM_002979.5(SCP2):c.15G>T (p.Pro5=) rs147697594 0.00014
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_002979.5(SCP2):c.1280C>G (p.Ala427Gly) rs144131493 0.00010
NM_002979.5(SCP2):c.901G>T (p.Val301Leu) rs374102289 0.00010
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) rs143534838 0.00006
NM_002979.5(SCP2):c.731A>G (p.Lys244Arg) rs201663646 0.00006
NM_002979.5(SCP2):c.855A>G (p.Ala285=) rs185811440 0.00006
NM_002979.5(SCP2):c.1264G>A (p.Val422Ile) rs370480896 0.00003
NM_002979.5(SCP2):c.1510T>C (p.Phe504Leu) rs765471614 0.00002
NM_002979.5(SCP2):c.531A>T (p.Lys177Asn) rs143441016 0.00002
NM_002979.5(SCP2):c.769C>G (p.Gln257Glu) rs777134729 0.00002
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) rs376582235 0.00001
NM_002979.5(SCP2):c.157C>T (p.Pro53Ser) rs773719700 0.00001
NM_002979.5(SCP2):c.443T>C (p.Ile148Thr) rs748097264 0.00001
NM_002979.5(SCP2):c.532A>G (p.Ile178Val) rs753547956 0.00001
NM_002979.5(SCP2):c.648T>C (p.Phe216=) rs774694600 0.00001
NM_002979.5(SCP2):c.928A>G (p.Thr310Ala) rs759459799 0.00001
NM_002979.5(SCP2):c.13C>G (p.Pro5Ala) rs1044388788
NM_002979.5(SCP2):c.383_391del (p.Ser128_Gly130del) rs1557556850
NM_002979.5(SCP2):c.468C>A (p.His156Gln) rs760012864
NM_002979.5(SCP2):c.555A>G (p.Gly185=) rs1361376336
NM_002979.5(SCP2):c.703A>G (p.Ile235Val) rs1553148523

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