ClinVar Miner

List of variants studied for Sanfilippo syndrome type D by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002076.4(GNS):c.1309-6C>G
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822
NM_002076.4(GNS):c.682A>G (p.Met228Val)
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)

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