ClinVar Miner

List of variants reported as pathogenic for Luscan-Lumish syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) rs2043056964
NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter) rs2107739635
NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter) rs2107696360
NM_014159.7(SETD2):c.5177del (p.Gly1726fs) rs2107651620
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter) rs2107651058
NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys) rs1575744958
NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter) rs2107600390

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