ClinVar Miner

List of variants reported as not provided for X-linked disease by GenomeConnect-Association for Creatine Deficiencies

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup) rs1603216676
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
Single allele

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