ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as benign for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.1539+215T>G rs7519275 0.34893
NM_017739.4(POMGNT1):c.951-52A>G rs7527935 0.34868
NM_017739.4(POMGNT1):c.1539+119A>G rs7521880 0.34864
NM_017739.4(POMGNT1):c.1212-66T>C rs2292484 0.34786
NM_017739.4(POMGNT1):c.1212-81C>T rs2292485 0.34766
NM_017739.4(POMGNT1):c.1650-212G>A rs12116820 0.29529
NM_017739.4(POMGNT1):c.1895+30A>G rs113174528 0.05532
NM_017739.4(POMGNT1):c.1785+31C>A rs78405727 0.05247
NM_017739.4(POMGNT1):c.1867= (p.Met623=) rs6659553 0.05119
NM_017739.4(POMGNT1):c.355-27C>T rs76693406 0.04225
NM_017739.4(POMGNT1):c.880-39G>C rs115804669 0.02824
NM_017739.4(POMGNT1):c.1111-23C>T rs2292486 0.02728
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.1539+319G>T rs7552589
NM_017739.4(POMGNT1):c.1650-109del rs946195454
NM_017739.4(POMGNT1):c.1650-127dup rs946195454
NM_017739.4(POMGNT1):c.1786-118A>C rs17102064

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