ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported as pathogenic for PCWH syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs) rs1932131665
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) rs397515368
NM_006941.4(SOX10):c.207_208del (p.Cys71fs) rs1932469753
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_006941.4(SOX10):c.395C>G (p.Ala132Gly) rs2145776948
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser) rs886039664
NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)
NM_006941.4(SOX10):c.748C>T (p.Gln250Ter) rs74315521
NM_006941.4(SOX10):c.752C>A (p.Ser251Ter) rs74315518
NM_006941.4(SOX10):c.797del (p.Gly266fs) rs397515371
NM_006941.4(SOX10):c.915del (p.His306fs) rs397515372
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter) rs74315516
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter) rs1932142815
NM_006941.4(SOX10):c.966dup (p.Ala323fs) rs2145761378

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