ClinVar Miner

List of variants reported as likely benign for acrocephalosyndactyly by Illumina Laboratory Services, Illumina

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4959T>C rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_004282.4(BAG2):c.*4565A>G rs11969200 0.00198
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_004282.4(BAG2):c.*5594A>G rs375855440 0.00093
NM_004282.4(BAG2):c.*3082A>G rs139222657 0.00086
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_004282.4(BAG2):c.*5287C>T rs148372304 0.00034
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117

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