List of variants in gene combination LOC126859690, PKHD1 reported as benign for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5236+14A>G	rs12210725	0.01912
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)	rs142465959	0.00286
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)	rs143717242	0.00178
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)	rs148108992	0.00014
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)	rs202010726	0.00006
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)	rs147529495
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)	rs148790132

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