ClinVar Miner

List of variants in gene combination LOC129992304, QDPR reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_000320.3(QDPR):c.18T>C (p.Ala6=) rs940829956 0.00010
NM_000320.3(QDPR):c.34C>A (p.Arg12=) rs1372264673 0.00001
NM_000320.3(QDPR):c.-24G>T rs529698353
NM_000320.3(QDPR):c.102C>T (p.Asn34=) rs1357084602
NM_000320.3(QDPR):c.105+10C>G
NM_000320.3(QDPR):c.105+11G>C
NM_000320.3(QDPR):c.105+13G>A
NM_000320.3(QDPR):c.105+13G>T
NM_000320.3(QDPR):c.105+14C>T
NM_000320.3(QDPR):c.105+15T>C
NM_000320.3(QDPR):c.105+16G>C
NM_000320.3(QDPR):c.105+20C>G
NM_000320.3(QDPR):c.12G>A (p.Ala4=)
NM_000320.3(QDPR):c.18T>G (p.Ala6=)
NM_000320.3(QDPR):c.21A>C (p.Ala7=)
NM_000320.3(QDPR):c.24C>G (p.Gly8=)
NM_000320.3(QDPR):c.36G>A (p.Arg12=) rs2108999106
NM_000320.3(QDPR):c.36G>C (p.Arg12=)
NM_000320.3(QDPR):c.40C>T (p.Leu14=)
NM_000320.3(QDPR):c.42G>A (p.Leu14=)
NM_000320.3(QDPR):c.45G>A (p.Val15=)
NM_000320.3(QDPR):c.51C>A (p.Gly17=)
NM_000320.3(QDPR):c.54C>A (p.Gly18=)
NM_000320.3(QDPR):c.60C>A (p.Gly20=)
NM_000320.3(QDPR):c.60C>T (p.Gly20=)
NM_000320.3(QDPR):c.6G>A (p.Ala2=)
NM_000320.3(QDPR):c.75A>C (p.Arg25=)
NM_000320.3(QDPR):c.81G>T (p.Val27=)
NM_000320.3(QDPR):c.90T>C (p.Phe30=)

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