ClinVar Miner

List of variants reported as pathogenic for neurocristopathy by New York Genome Center

Included ClinVar conditions (167):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971

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