ClinVar Miner

List of variants studied for Perlman syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_152383.4(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.4(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437
NM_152383.4(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374
NM_152383.4(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544
NM_152383.4(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365
NM_152383.4(DIS3L2):c.1727G>A (p.Arg576His) rs200386096
NM_152383.4(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146
NM_152383.4(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733
NM_152383.4(DIS3L2):c.2245G>A (p.Val749Met) rs755574750
NM_152383.4(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407
NM_152383.4(DIS3L2):c.301G>T (p.Ala101Ser) rs199857926
NM_152383.4(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073
NM_152383.4(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526
NM_152383.4(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759

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