ClinVar Miner

List of variants in gene SOX9 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00115
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=) rs80338688 0.00095
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser) rs768818630 0.00037
NM_000346.4(SOX9):c.1503C>T (p.Pro501=) rs139015010 0.00031
NM_000346.4(SOX9):c.*9C>T rs372582694 0.00013
NM_000346.4(SOX9):c.480G>A (p.Arg160=) rs370267426 0.00007
NM_000346.4(SOX9):c.948G>A (p.Thr316=) rs773254646 0.00003
NM_000346.4(SOX9):c.1061_1087del (p.Pro354_Pro362del) rs1406338336
NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del) rs772713612
NM_000346.4(SOX9):c.1482C>T (p.Ser494=) rs189130850

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