ClinVar Miner

List of variants in gene PKHD1 reported as benign for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP
GRCh37/hg19 6p12.3(chr6:51666631-51669392)x1
GRCh37/hg19 6p12.3(chr6:51667324-51669392)x1
GRCh37/hg19 6p12.3(chr6:51667324-51669492)x1
GRCh37/hg19 6p12.3(chr6:51728998-51737987)x0
GRCh37/hg19 6p12.3(chr6:51734163-51736742)x0
GRCh37/hg19 6p12.3(chr6:51736175-51757497)x1
NM_138694.3(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.3(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205
NM_138694.3(PKHD1):c.3876C>T (p.Thr1292=) rs2499482
NM_138694.3(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.3(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.3(PKHD1):c.6333-8_6333-7delTT rs138161138
NM_138694.3(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.3(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.3(PKHD1):c.779-13_779-12delTT rs5876252
NM_138694.3(PKHD1):c.8108-16G>C rs73442356
NM_138694.3(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.3(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.3(PKHD1):c.9829+10T>G rs143526199

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