ClinVar Miner

List of variants in gene combination LOC130004614, SUFU reported as pathogenic for central nervous system neoplasm

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
NM_016169.4(SUFU):c.37_53del (p.Thr13fs) rs2135597189
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016169.4(SUFU):c.44C>T (p.Pro15Leu) rs28942088
NM_016169.4(SUFU):c.53_59del (p.Pro18fs) rs2135597558
NM_016169.4(SUFU):c.53del (p.Pro18fs) rs2135597588
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.73dup (p.Ala25fs) rs2135597894
NM_016169.4(SUFU):c.82_86del (p.Ser28fs) rs2135597925
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
NM_016169.4(SUFU):c.95del (p.Pro32fs)

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