ClinVar Miner

List of variants in gene combination LOC101928008, SBF2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val) rs143883319 0.00005
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys) rs753111342 0.00004
NM_030962.4(SBF2):c.2084C>G (p.Pro695Arg) rs759749653
NM_030962.4(SBF2):c.2173C>A (p.Pro725Thr) rs755569072
NM_030962.4(SBF2):c.2476G>A (p.Val826Ile) rs1564917788
NM_030962.4(SBF2):c.2738C>G (p.Pro913Arg) rs1856815119
NM_030962.4(SBF2):c.3110+8G>A rs1856483479
NM_030962.4(SBF2):c.3389C>G (p.Ser1130Cys) rs1855964179

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