ClinVar Miner

List of variants reported as benign for cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1141-44C>T rs2076296 0.77690
NM_004415.4(DSP):c.3084+28G>A rs2842691 0.77273
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_004415.4(DSP):c.3084+24T>G rs2806229 0.74918
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_004415.4(DSP):c.1904-49T>A rs2076303 0.41041
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002

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