ClinVar Miner

List of variants reported as uncertain significance for SchC6pf-Schulz-Passarge syndrome by Natera, Inc.

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile) rs373607885 0.00016
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_025216.3(WNT10A):c.444G>A (p.Ala148=) rs147145554 0.00010
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp) rs200487809 0.00005
NM_025216.3(WNT10A):c.914G>A (p.Arg305His) rs746769946 0.00003
NM_025216.3(WNT10A):c.660C>T (p.Phe220=) rs765046353 0.00002
NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys) rs1186983054 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) rs758023820 0.00001
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln) rs772154760 0.00001
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys) rs1234227647 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) rs773598047
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) rs149245953
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) rs778752861
NM_025216.3(WNT10A):c.801G>A (p.Thr267=) rs553058408
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) rs541715493
NM_025216.3(WNT10A):c.958C>T (p.Pro320Ser) rs1944673587
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup) rs1416466883

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