ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 33
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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.1895+30A>G rs113174528 0.05532
NM_017739.4(POMGNT1):c.1785+31C>A rs78405727 0.05247
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.1540-16C>T rs10493123 0.02014
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_017739.4(POMGNT1):c.1785+46C>T rs112610756 0.01013
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.534+40C>A rs138588408 0.00109
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.*302A>G
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)
NM_017739.4(POMGNT1):c.535-7C>T rs375913574

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