ClinVar Miner

List of variants in gene PPP1R12A reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002480.3(PPP1R12A):c.2373G>C (p.Leu791=) rs2694657 0.21123
NM_002480.3(PPP1R12A):c.1656-6G>A rs143177403 0.01555
NM_002480.3(PPP1R12A):c.2484G>A (p.Glu828=) rs113668494 0.00803
NM_002480.3(PPP1R12A):c.1642A>G (p.Thr548Ala) rs61743758 0.00627
NM_002480.3(PPP1R12A):c.1811G>C (p.Gly604Ala) rs61756418 0.00517
NM_002480.3(PPP1R12A):c.368+12C>A rs138600226 0.00497
NM_002480.3(PPP1R12A):c.2584-13A>C rs199513392 0.00178
NM_002480.3(PPP1R12A):c.1883C>T (p.Thr628Met) rs200758355 0.00143
NM_002480.3(PPP1R12A):c.1410A>C (p.Ser470=) rs184111440 0.00122
NM_002480.3(PPP1R12A):c.487+16A>T rs181929916 0.00094
NM_002480.3(PPP1R12A):c.1050G>A (p.Lys350=) rs182401823 0.00089
NM_002480.3(PPP1R12A):c.1568G>A (p.Arg523Gln) rs202164787 0.00050
NM_002480.3(PPP1R12A):c.1278A>C (p.Glu426Asp) rs200571603 0.00036
NM_002480.3(PPP1R12A):c.1164A>G (p.Thr388=) rs377610727 0.00023
NM_002480.3(PPP1R12A):c.1219C>A (p.Pro407Thr) rs768174999 0.00013
NM_002480.3(PPP1R12A):c.2769G>C (p.Arg923Ser) rs201853273 0.00013
NM_002480.3(PPP1R12A):c.2335A>G (p.Thr779Ala) rs201175104 0.00006
NM_002480.3(PPP1R12A):c.393T>C (p.His131=) rs574299785 0.00004
NM_002480.3(PPP1R12A):c.1455+13A>G rs372098888 0.00003
NM_002480.3(PPP1R12A):c.2411T>C (p.Val804Ala) rs200167333 0.00003
NM_002480.3(PPP1R12A):c.525G>A (p.Arg175=) rs923251642 0.00003
NM_002480.3(PPP1R12A):c.1141A>G (p.Thr381Ala) rs752892850 0.00001
NM_002480.3(PPP1R12A):c.1132G>A (p.Ala378Thr) rs2547927436
NM_002480.3(PPP1R12A):c.2739C>T (p.Tyr913=)
NM_002480.3(PPP1R12A):c.2908-5T>C rs771817694
NM_002480.3(PPP1R12A):c.647+16dup rs2547952006
NM_002480.3(PPP1R12A):c.792+16G>A
NM_002480.3(PPP1R12A):c.997C>T (p.Arg333Cys)

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