ClinVar Miner

List of variants reported as pathogenic 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: 12
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) rs606231293
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.748C>T (p.Gln250Ter) rs2113666898
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352

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