ClinVar Miner

List of variants reported as benign for Marshall-Smith syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_001365902.3(NFIX):c.1078+20G>A rs202139307 0.00078
NM_001365902.3(NFIX):c.698-12C>T rs372409455 0.00061
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=) rs761114067 0.00031
NM_001365902.3(NFIX):c.1026G>A (p.Pro342=) rs774838479 0.00013
NM_001365902.3(NFIX):c.1236G>A (p.Ser412=) rs367955217 0.00011
NM_001365902.3(NFIX):c.28-15G>A
NM_001365902.3(NFIX):c.28-326G>A
NM_001365902.3(NFIX):c.336C>T (p.Gly112=)
NM_001365902.3(NFIX):c.559+23del
NM_001365902.3(NFIX):c.564C>T (p.Ser188=)
NM_001365902.3(NFIX):c.622+8C>G
NM_001365902.3(NFIX):c.818+9_818+16del
NM_001365902.3(NFIX):c.933G>A (p.Gly311=)
NM_001365902.3(NFIX):c.942C>T (p.Asn314=)

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