ClinVar Miner

List of variants studied for Singleton-Merten syndrome 2 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014314.4(RIGI):c.2400A>C (p.Val800=) rs3205166 0.34612
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu) rs17217280 0.10366
NM_014314.4(RIGI):c.2337+11G>A rs45589431 0.10215
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
NM_014314.4(RIGI):c.1376-21dup rs71302893
NM_014314.4(RIGI):c.1481-21dup rs71504272

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