ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 0.00007
NM_004168.4(SDHA):c.1064+5G>A rs200021115 0.00006
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209 0.00003
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln) rs201968826 0.00003
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg) rs565499116 0.00001
NM_001079802.2(FKTN):c.419T>C (p.Ile140Thr)
NM_001267550.2(TTN):c.100372del (p.Ile33458fs)
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del) rs2050997801
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.69217_69218del (p.Lys23073fs)
NM_001267550.2(TTN):c.75581C>G (p.Ser25194Ter)
NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
NM_004006.3(DMD):c.6640T>G (p.Ser2214Ala)
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
NM_032578.4(MYPN):c.2285G>A (p.Ser762Asn)

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