ClinVar Miner

List of variants studied for congenital muscular dystrophy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202 0.00001
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr) rs777736302
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331

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