ClinVar Miner

List of variants studied for mosaic SMO syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005631.5(SMO):c.621C>T (p.Tyr207=) rs56318556 0.00282
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln) rs142495470 0.00078
NM_005631.5(SMO):c.1102C>G (p.Pro368Ala)
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) rs879255280
NM_005631.5(SMO):c.537G>A (p.Thr179=)
NM_005631.5(SMO):c.771G>A (p.Arg257=)

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