ClinVar Miner

List of variants studied for inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser) rs772603507 0.00001
NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala) rs1592173638
NM_031157.4(HNRNPA1):c.240_243del (p.Asp80fs) rs2137041785
NM_031157.4(HNRNPA1):c.491-3dup rs202119045
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val) rs397518452

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