ClinVar Miner

List of variants studied for Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_016169.4(SUFU):c.169A>G (p.Ile57Val) rs377614167 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys) rs767814106 0.00001
NM_016169.4(SUFU):c.1429G>A (p.Val477Met) rs1060501117 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.1085G>C (p.Arg362Pro)
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp) rs1227379293
NM_016169.4(SUFU):c.9G>C (p.Glu3Asp)

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