ClinVar Miner

List of variants studied for Seckel syndrome by Mendelics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909
NM_016350.4(NIN):c.2399+2201A>C rs12882191
NM_016350.4(NIN):c.2400-2204G>A rs2073347
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu) rs2295847

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