ClinVar Miner

List of variants in gene PSMG1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003720.4(PSMG1):c.323C>T (p.Thr108Ile) rs143749424 0.00063
NM_003720.4(PSMG1):c.429A>T (p.Glu143Asp) rs145581162 0.00023
NM_003720.4(PSMG1):c.776T>G (p.Leu259Trp) rs556876616 0.00015
NM_003720.4(PSMG1):c.524A>T (p.Tyr175Phe) rs145022066 0.00014
NM_003720.4(PSMG1):c.634G>A (p.Val212Ile) rs200756272 0.00013
NM_003720.4(PSMG1):c.386A>G (p.Asn129Ser) rs200278874 0.00011
NM_003720.4(PSMG1):c.509G>A (p.Arg170Gln) rs372682958 0.00002
NM_003720.4(PSMG1):c.591C>G (p.Phe197Leu) rs759272360 0.00002
NM_003720.4(PSMG1):c.640G>A (p.Asp214Asn) rs970810152 0.00002
NM_003720.4(PSMG1):c.497T>G (p.Ile166Ser) rs375585989 0.00001
NM_003720.4(PSMG1):c.155G>A (p.Arg52Lys)
NM_003720.4(PSMG1):c.221C>T (p.Ala74Val)
NM_003720.4(PSMG1):c.223A>G (p.Ile75Val)
NM_003720.4(PSMG1):c.304T>C (p.Trp102Arg)
NM_003720.4(PSMG1):c.374A>G (p.His125Arg)
NM_003720.4(PSMG1):c.38C>G (p.Pro13Arg) rs150047855
NM_003720.4(PSMG1):c.38C>T (p.Pro13Leu) rs150047855
NM_003720.4(PSMG1):c.490A>T (p.Ile164Leu) rs770931237
NM_003720.4(PSMG1):c.494C>T (p.Thr165Ile)
NM_003720.4(PSMG1):c.554C>T (p.Pro185Leu) rs2516791786
NM_003720.4(PSMG1):c.715G>A (p.Val239Met) rs2030669887
NM_003720.4(PSMG1):c.853A>G (p.Asn285Asp)

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