ClinVar Miner

List of variants studied for Dent disease type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NG_008638.1:g.(5550_9683)_(13328_22050)del
NM_000276.3:c.2140_*2286del
NM_000276.4(OCRL):c.1060A>C (p.Asn354His) rs137853833
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val) rs773387490
OCRL, 2-BP DEL, 166TT
OCRL, ARG476TRP
OCRL, ILE526THR

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