ClinVar Miner

List of variants reported as likely pathogenic for gingival disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
46;XY;t(3;17)(p14.3;q24.3)dn
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) rs1553904077
NM_005612.5(REST):c.2413del (p.Leu805fs) rs1553904346
NM_005612.5(REST):c.2770C>T (p.Gln924Ter) rs1284461687
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) rs1553904481
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518

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