ClinVar Miner

List of variants reported as uncertain significance for Keutel syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000900.4(MGP):c.-117C>T rs569710471 0.00071
NM_000900.4(MGP):c.-66C>A rs150994762 0.00043
NM_000900.5(MGP):c.234T>C (p.Leu78=) rs149084241 0.00034
NM_000900.5(MGP):c.198C>T (p.His66=) rs151158281 0.00024
NM_000900.5(MGP):c.*251T>C rs886049105 0.00016
NM_000900.5(MGP):c.*476T>C rs184916517 0.00014
NM_000900.5(MGP):c.*531T>C rs535008800 0.00001
NM_000900.5(MGP):c.84T>C (p.Ser28=) rs886049107 0.00001
NM_000900.5(MGP):c.*176C>G rs935518014
NM_000900.5(MGP):c.*315dup rs886049104
NM_000900.5(MGP):c.*455del rs886049103
NM_000900.5(MGP):c.*720C>A rs1032590657
NM_000900.5(MGP):c.237C>T (p.Cys79=) rs886049106
NM_000900.5(MGP):c.46G>A (p.Val16Ile) rs868750856
NM_000900.5(MGP):c.62A>T (p.Glu21Val)
NM_000900.5(MGP):c.77T>C (p.Met26Thr) rs754107566

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