ClinVar Miner

List of variants in gene LAMP2 reported as likely pathogenic for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.3(LAMP2):c.35_52del (p.Ser12_Val17del) rs2147294820
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-1G>C rs397516752
NM_002294.3(LAMP2):c.98_101del (p.Asn32_Leu33insTer) rs2147287662
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_013995.2(LAMP2):c.217dup (p.Thr73fs) rs397516739

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