ClinVar Miner

List of variants in gene combination LOC126806424, TTN reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006

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