ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (195):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016628.5(WAC):c.31C>T (p.Leu11Phe) rs139935489 0.00001
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu) rs2105823252
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg) rs1680702734
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) rs2105642407
NM_001378120.1(MBD5):c.4963-2A>T rs2105225632
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) rs1039699590

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