ClinVar Miner

List of variants reported for Hypotonia by Institute of Human Genetics, University of Wuerzburg

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.4160+1G>A	rs113460156	0.00001
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)	rs1583169151
NM_001378183.1(PIEZO2):c.410G>A (p.Trp137Ter)	rs2144788058
NM_017739.4(POMGNT1):c.1111-9C>G	rs757533535
NM_022041.4(GAN):c.141C>G (p.Ile47Met)	rs373819552

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