ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as benign by Natera, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
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.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242

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