ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006265.3(RAD21):c.1349G>A (p.Arg450His) rs1051321465 0.00001
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_015100.4(POGZ):c.634G>A (p.Val212Met) rs1553226286
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr) rs1561826815
Single allele

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