ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.1414-38G>A rs72897094 0.00865
NM_017739.4(POMGNT1):c.1650-196G>A rs187191355 0.00422
NM_017739.4(POMGNT1):c.1605-62G>A rs116579447 0.00411
NM_017739.4(POMGNT1):c.1211+44A>C rs148499695 0.00389
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_017739.4(POMGNT1):c.1539+218G>A rs540928212 0.00326
NM_017739.4(POMGNT1):c.1539+69G>A rs192904169 0.00285
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.1650-41T>C rs369372763 0.00181
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.*347G>A rs746679629 0.00007
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017739.4(POMGNT1):c.1414-11A>C rs772014671 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=) rs139266745 0.00001
NM_017739.4(POMGNT1):c.1591A>C (p.Arg531=) rs1282014120
NM_017739.4(POMGNT1):c.1785+40C>G rs190156535
NM_017739.4(POMGNT1):c.900C>A (p.Leu300=) rs778664130

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