ClinVar Miner

List of variants in gene combination MRNIP, SQSTM1 reported as uncertain significance for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016175.4(MRNIP):c.538-102G>A rs182968597 0.00169
NM_016175.4(MRNIP):c.*88C>G rs149508576 0.00097
NM_016175.4(MRNIP):c.993C>T (p.Asp331=) rs148611524 0.00041
NM_016175.4(MRNIP):c.538-44G>A rs199862884 0.00014
NM_016175.4(MRNIP):c.538-61G>A rs1436678583 0.00011
NM_016175.4(MRNIP):c.689C>T (p.Ala230Val) rs143664576 0.00007
NM_016175.4(MRNIP):c.843C>T (p.Ala281=) rs199727564 0.00006
NM_016175.4(MRNIP):c.538-188G>A rs886060510 0.00003
NM_016175.4(MRNIP):c.557G>A (p.Trp186Ter) rs1443080077 0.00001
NM_016175.4(MRNIP):c.625A>G (p.Arg209Gly) rs778576827 0.00001
NM_016175.4(MRNIP):c.*71_*74dup rs144467418
NM_016175.4(MRNIP):c.*76A>G rs1758623010
NM_016175.4(MRNIP):c.538-7_538-6del rs745365806
NM_016175.4(MRNIP):c.595A>G (p.Asn199Asp) rs886060508

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