ClinVar Miner

List of variants studied for chromosome 4 short arm deletion by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) rs1045458 0.01026
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711 0.00201
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) rs201262483 0.00041
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) rs145996246
NM_012318.3(LETM1):c.83-19dup rs145853749

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