ClinVar Miner

List of variants in gene DSP studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 17
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HGVS dbSNP
NM_004415.4(DSP):c.1315G>A (p.Val439Ile) rs587782941
NM_004415.4(DSP):c.1348C>G (p.Pro450Ala) rs869025390
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.4(DSP):c.3199G>T (p.Ala1067Ser) rs730880083
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5161_5163GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088
NM_004415.4(DSP):c.7213C>A (p.Leu2405Ile) rs774401264
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693

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