List of variants reported as likely pathogenic for autosomal recessive disease by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	rs199897298	0.00021
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)	rs199874519	0.00016
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)	rs756363870	0.00004
NM_016239.4(MYO15A):c.2873del (p.Pro958fs)	rs1217492313
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)	rs1554232224

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