ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2P

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_004393.6(DAG1):c.285+42T>C rs2329024 0.97521
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004393.6(DAG1):c.112del (p.Ala38fs)
NM_004393.6(DAG1):c.1915G>A (p.Asp639Asn)
NM_004393.6(DAG1):c.255_258delinsCC (p.Leu86fs)
NM_004393.6(DAG1):c.41C>T (p.Ser14Leu)
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881

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