ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys) rs775256033 0.00004
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu) rs762309788 0.00001
NM_017534.6(MYH2):c.5149G>A (p.Glu1717Lys) rs1479754797 0.00001
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000540.3(RYR1):c.11524G>C (p.Asp3842His)
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_001159699.2(FHL1):c.658G>A (p.Glu220Lys)
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg) rs757621514
NM_001231.5(CASQ1):c.829-2A>G rs1378829381
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
NM_002478.5(MYOD1):c.607C>G (p.Arg203Gly) rs2133764481
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) rs2106342223
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
NM_016532.4(INPP5K):c.152+5G>T
NM_016532.4(INPP5K):c.809G>A (p.Arg270His)
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) rs1219162535
NM_182914.3(SYNE2):c.12108+10_12108+32dup rs1333520524

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