ClinVar Miner

List of variants studied for chromosomal disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_016628.5(WAC):c.31C>T (p.Leu11Phe) rs139935489 0.00001
NC_000011.9:g.104288964_134937416dup
NC_000022.10:g.21514655_22986816del
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu) rs2105823252
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu) rs1329146990
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_002397.5(MEF2C):c.402+184del rs2152669802
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) rs1039699590
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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