ClinVar Miner

List of variants reported as uncertain significance for congenital muscular dystrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632 0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser) rs147149991 0.00002
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys) rs1294289973 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.717+1G>A rs113969925 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr) rs1057518924
NM_001077365.2(POMT1):c.700-17C>T rs1946817783
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys) rs1057518861
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser) rs2051376280
NM_005198.5(CHKB):c.305T>C (p.Leu102Pro) rs2070709347
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) rs2054938604

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