ClinVar Miner

List of variants in gene POMGNT1 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 0.00001
NC_000001.10:g.(?_46654381)_(46656466_?)del
NC_000001.10:g.(?_46655193)_(46661449_?)del
NC_000001.10:g.(?_46656382)_(46662766_?)del
NC_000001.10:g.(?_46663448)_(46664153_?)del
NM_017739.4(POMGNT1):c.10del (p.Trp4fs) rs1571672866
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) rs749603354
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.36del (p.Phe13fs) rs1658363329
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter) rs1264635358
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer) rs2148222613
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)

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